Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MB...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 2016-10, Vol.99 (4), p.912-916 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 916 |
|---|---|
| container_issue | 4 |
| container_start_page | 912 |
| container_title | American journal of human genetics |
| container_volume | 99 |
| creator | Johansen, Anide Rosti, Rasim O. Musaev, Damir Sticca, Evan Harripaul, Ricardo Zaki, Maha Çağlayan, Ahmet Okay Azam, Matloob Sultan, Tipu Froukh, Tawfiq Reis, André Popp, Bernt Ahmed, Iltaf John, Peter Ayub, Muhammad Ben-Omran, Tawfeg Vincent, John B. Gleeson, Joseph G. Abou Jamra, Rami |
| description | The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol. This study suggests a role for AA-containing phosphatidylinositols in the development of ID accompanied by epilepsy and autistic features. |
| doi_str_mv | 10.1016/j.ajhg.2016.07.019 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5065650</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002929716302932</els_id><sourcerecordid>4237331301</sourcerecordid><originalsourceid>FETCH-LOGICAL-c549t-6af39daf3ccb5bef09cd16b2462cbed8e534eaa3787637fd2dcedc0fcf8f197b3</originalsourceid><addsrcrecordid>eNp9kcFu1DAQhiMEokvhBTggS1w4NMFONnYiIaSlbGGlrXopZ8uxJ7uOvHawnUp5El4XL9tWhQMX29J888szX5a9JbggmNCPQyGG_a4o07vArMCkfZYtSF2xnFJcP88WGOMyb8uWnWWvQhgwJqTB1cvsrGSU0GWDF9mv6ymKqJ0NSFt0_eVmdcsu0NpKp7Tdoe0c3Lh3YdwnSM1GWxd0dAat5GyiFzb04EUAtLlAWxAKRYc2NoIxIOMkDPqqg-i00XFOLdIdRmE1KNTNaD1qA2OYkbAKraaoQ9QSXYGIk4fwOnvRCxPgzf19nv24Wt9efs-3N982l6ttLutlG3Mq-qpV6ZCyqzvocSsVoV25pKXsQDVQV0sQomINoxXrVakkKIl72Tc9aVlXnWefT7nj1B1SCWyayvDR64PwM3dC878rVu_5zt3xGtOa1jgFfLgP8O7nBCHygw4yLUBYcFPgpKmSkbamTULf_4MObvI2jfeHom06SaLKEyW9C8FD__gZgvnROx_40Ts_eueY8eQ9Nb17OsZjy4PoBHw6AZCWeafB8yA12LQN7ZMqrpz-X_5vgazDtw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1835691831</pqid></control><display><type>article</type><title>Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features</title><source>MEDLINE</source><source>Cell Press Free Archives</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>ScienceDirect Journals (5 years ago - present)</source><source>PubMed Central</source><creator>Johansen, Anide ; Rosti, Rasim O. ; Musaev, Damir ; Sticca, Evan ; Harripaul, Ricardo ; Zaki, Maha ; Çağlayan, Ahmet Okay ; Azam, Matloob ; Sultan, Tipu ; Froukh, Tawfiq ; Reis, André ; Popp, Bernt ; Ahmed, Iltaf ; John, Peter ; Ayub, Muhammad ; Ben-Omran, Tawfeg ; Vincent, John B. ; Gleeson, Joseph G. ; Abou Jamra, Rami</creator><creatorcontrib>Johansen, Anide ; Rosti, Rasim O. ; Musaev, Damir ; Sticca, Evan ; Harripaul, Ricardo ; Zaki, Maha ; Çağlayan, Ahmet Okay ; Azam, Matloob ; Sultan, Tipu ; Froukh, Tawfiq ; Reis, André ; Popp, Bernt ; Ahmed, Iltaf ; John, Peter ; Ayub, Muhammad ; Ben-Omran, Tawfeg ; Vincent, John B. ; Gleeson, Joseph G. ; Abou Jamra, Rami</creatorcontrib><description>The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol. This study suggests a role for AA-containing phosphatidylinositols in the development of ID accompanied by epilepsy and autistic features.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2016.07.019</identifier><identifier>PMID: 27616480</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Acyltransferases - genetics ; Acyltransferases - metabolism ; arachidonic acid ; Arachidonic Acid - metabolism ; Autism ; Autistic Disorder - complications ; Autistic Disorder - enzymology ; Autistic Disorder - genetics ; Autistic Disorder - metabolism ; Child ; Child, Preschool ; Consanguinity ; Enzymes ; Epilepsy ; Epilepsy - complications ; Epilepsy - enzymology ; Epilepsy - genetics ; Epilepsy - metabolism ; Female ; Homozygote ; Humans ; Infant ; inflammation ; Intellectual disabilities ; intellectual disability ; Intellectual Disability - complications ; Intellectual Disability - enzymology ; Intellectual Disability - genetics ; Intellectual Disability - metabolism ; lipid ; LPIAT1 ; Lysophospholipids - metabolism ; Male ; MBOAT7 ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Membranes ; Mutation ; Pedigree ; phosphatidylinositol ; Phosphatidylinositols - metabolism</subject><ispartof>American journal of human genetics, 2016-10, Vol.99 (4), p.912-916</ispartof><rights>2016</rights><rights>Copyright © 2016. Published by Elsevier Inc.</rights><rights>Copyright Cell Press Oct 6, 2016</rights><rights>2016. 2016</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c549t-6af39daf3ccb5bef09cd16b2462cbed8e534eaa3787637fd2dcedc0fcf8f197b3</citedby><cites>FETCH-LOGICAL-c549t-6af39daf3ccb5bef09cd16b2462cbed8e534eaa3787637fd2dcedc0fcf8f197b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065650/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ajhg.2016.07.019$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3548,27923,27924,45994,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27616480$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Johansen, Anide</creatorcontrib><creatorcontrib>Rosti, Rasim O.</creatorcontrib><creatorcontrib>Musaev, Damir</creatorcontrib><creatorcontrib>Sticca, Evan</creatorcontrib><creatorcontrib>Harripaul, Ricardo</creatorcontrib><creatorcontrib>Zaki, Maha</creatorcontrib><creatorcontrib>Çağlayan, Ahmet Okay</creatorcontrib><creatorcontrib>Azam, Matloob</creatorcontrib><creatorcontrib>Sultan, Tipu</creatorcontrib><creatorcontrib>Froukh, Tawfiq</creatorcontrib><creatorcontrib>Reis, André</creatorcontrib><creatorcontrib>Popp, Bernt</creatorcontrib><creatorcontrib>Ahmed, Iltaf</creatorcontrib><creatorcontrib>John, Peter</creatorcontrib><creatorcontrib>Ayub, Muhammad</creatorcontrib><creatorcontrib>Ben-Omran, Tawfeg</creatorcontrib><creatorcontrib>Vincent, John B.</creatorcontrib><creatorcontrib>Gleeson, Joseph G.</creatorcontrib><creatorcontrib>Abou Jamra, Rami</creatorcontrib><title>Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol. This study suggests a role for AA-containing phosphatidylinositols in the development of ID accompanied by epilepsy and autistic features.</description><subject>Acyltransferases - genetics</subject><subject>Acyltransferases - metabolism</subject><subject>arachidonic acid</subject><subject>Arachidonic Acid - metabolism</subject><subject>Autism</subject><subject>Autistic Disorder - complications</subject><subject>Autistic Disorder - enzymology</subject><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - metabolism</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Consanguinity</subject><subject>Enzymes</subject><subject>Epilepsy</subject><subject>Epilepsy - complications</subject><subject>Epilepsy - enzymology</subject><subject>Epilepsy - genetics</subject><subject>Epilepsy - metabolism</subject><subject>Female</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>inflammation</subject><subject>Intellectual disabilities</subject><subject>intellectual disability</subject><subject>Intellectual Disability - complications</subject><subject>Intellectual Disability - enzymology</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - metabolism</subject><subject>lipid</subject><subject>LPIAT1</subject><subject>Lysophospholipids - metabolism</subject><subject>Male</subject><subject>MBOAT7</subject><subject>Membrane Proteins - genetics</subject><subject>Membrane Proteins - metabolism</subject><subject>Membranes</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>phosphatidylinositol</subject><subject>Phosphatidylinositols - metabolism</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kcFu1DAQhiMEokvhBTggS1w4NMFONnYiIaSlbGGlrXopZ8uxJ7uOvHawnUp5El4XL9tWhQMX29J888szX5a9JbggmNCPQyGG_a4o07vArMCkfZYtSF2xnFJcP88WGOMyb8uWnWWvQhgwJqTB1cvsrGSU0GWDF9mv6ymKqJ0NSFt0_eVmdcsu0NpKp7Tdoe0c3Lh3YdwnSM1GWxd0dAat5GyiFzb04EUAtLlAWxAKRYc2NoIxIOMkDPqqg-i00XFOLdIdRmE1KNTNaD1qA2OYkbAKraaoQ9QSXYGIk4fwOnvRCxPgzf19nv24Wt9efs-3N982l6ttLutlG3Mq-qpV6ZCyqzvocSsVoV25pKXsQDVQV0sQomINoxXrVakkKIl72Tc9aVlXnWefT7nj1B1SCWyayvDR64PwM3dC878rVu_5zt3xGtOa1jgFfLgP8O7nBCHygw4yLUBYcFPgpKmSkbamTULf_4MObvI2jfeHom06SaLKEyW9C8FD__gZgvnROx_40Ts_eueY8eQ9Nb17OsZjy4PoBHw6AZCWeafB8yA12LQN7ZMqrpz-X_5vgazDtw</recordid><startdate>20161006</startdate><enddate>20161006</enddate><creator>Johansen, Anide</creator><creator>Rosti, Rasim O.</creator><creator>Musaev, Damir</creator><creator>Sticca, Evan</creator><creator>Harripaul, Ricardo</creator><creator>Zaki, Maha</creator><creator>Çağlayan, Ahmet Okay</creator><creator>Azam, Matloob</creator><creator>Sultan, Tipu</creator><creator>Froukh, Tawfiq</creator><creator>Reis, André</creator><creator>Popp, Bernt</creator><creator>Ahmed, Iltaf</creator><creator>John, Peter</creator><creator>Ayub, Muhammad</creator><creator>Ben-Omran, Tawfeg</creator><creator>Vincent, John B.</creator><creator>Gleeson, Joseph G.</creator><creator>Abou Jamra, Rami</creator><general>Elsevier Inc</general><general>Cell Press</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20161006</creationdate><title>Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features</title><author>Johansen, Anide ; Rosti, Rasim O. ; Musaev, Damir ; Sticca, Evan ; Harripaul, Ricardo ; Zaki, Maha ; Çağlayan, Ahmet Okay ; Azam, Matloob ; Sultan, Tipu ; Froukh, Tawfiq ; Reis, André ; Popp, Bernt ; Ahmed, Iltaf ; John, Peter ; Ayub, Muhammad ; Ben-Omran, Tawfeg ; Vincent, John B. ; Gleeson, Joseph G. ; Abou Jamra, Rami</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c549t-6af39daf3ccb5bef09cd16b2462cbed8e534eaa3787637fd2dcedc0fcf8f197b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Acyltransferases - genetics</topic><topic>Acyltransferases - metabolism</topic><topic>arachidonic acid</topic><topic>Arachidonic Acid - metabolism</topic><topic>Autism</topic><topic>Autistic Disorder - complications</topic><topic>Autistic Disorder - enzymology</topic><topic>Autistic Disorder - genetics</topic><topic>Autistic Disorder - metabolism</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Consanguinity</topic><topic>Enzymes</topic><topic>Epilepsy</topic><topic>Epilepsy - complications</topic><topic>Epilepsy - enzymology</topic><topic>Epilepsy - genetics</topic><topic>Epilepsy - metabolism</topic><topic>Female</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>inflammation</topic><topic>Intellectual disabilities</topic><topic>intellectual disability</topic><topic>Intellectual Disability - complications</topic><topic>Intellectual Disability - enzymology</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - metabolism</topic><topic>lipid</topic><topic>LPIAT1</topic><topic>Lysophospholipids - metabolism</topic><topic>Male</topic><topic>MBOAT7</topic><topic>Membrane Proteins - genetics</topic><topic>Membrane Proteins - metabolism</topic><topic>Membranes</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>phosphatidylinositol</topic><topic>Phosphatidylinositols - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Johansen, Anide</creatorcontrib><creatorcontrib>Rosti, Rasim O.</creatorcontrib><creatorcontrib>Musaev, Damir</creatorcontrib><creatorcontrib>Sticca, Evan</creatorcontrib><creatorcontrib>Harripaul, Ricardo</creatorcontrib><creatorcontrib>Zaki, Maha</creatorcontrib><creatorcontrib>Çağlayan, Ahmet Okay</creatorcontrib><creatorcontrib>Azam, Matloob</creatorcontrib><creatorcontrib>Sultan, Tipu</creatorcontrib><creatorcontrib>Froukh, Tawfiq</creatorcontrib><creatorcontrib>Reis, André</creatorcontrib><creatorcontrib>Popp, Bernt</creatorcontrib><creatorcontrib>Ahmed, Iltaf</creatorcontrib><creatorcontrib>John, Peter</creatorcontrib><creatorcontrib>Ayub, Muhammad</creatorcontrib><creatorcontrib>Ben-Omran, Tawfeg</creatorcontrib><creatorcontrib>Vincent, John B.</creatorcontrib><creatorcontrib>Gleeson, Joseph G.</creatorcontrib><creatorcontrib>Abou Jamra, Rami</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Johansen, Anide</au><au>Rosti, Rasim O.</au><au>Musaev, Damir</au><au>Sticca, Evan</au><au>Harripaul, Ricardo</au><au>Zaki, Maha</au><au>Çağlayan, Ahmet Okay</au><au>Azam, Matloob</au><au>Sultan, Tipu</au><au>Froukh, Tawfiq</au><au>Reis, André</au><au>Popp, Bernt</au><au>Ahmed, Iltaf</au><au>John, Peter</au><au>Ayub, Muhammad</au><au>Ben-Omran, Tawfeg</au><au>Vincent, John B.</au><au>Gleeson, Joseph G.</au><au>Abou Jamra, Rami</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2016-10-06</date><risdate>2016</risdate><volume>99</volume><issue>4</issue><spage>912</spage><epage>916</epage><pages>912-916</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol. This study suggests a role for AA-containing phosphatidylinositols in the development of ID accompanied by epilepsy and autistic features.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>27616480</pmid><doi>10.1016/j.ajhg.2016.07.019</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 2016-10, Vol.99 (4), p.912-916 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5065650 |
| source | MEDLINE; Cell Press Free Archives; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; ScienceDirect Journals (5 years ago - present); PubMed Central |
| subjects | Acyltransferases - genetics Acyltransferases - metabolism arachidonic acid Arachidonic Acid - metabolism Autism Autistic Disorder - complications Autistic Disorder - enzymology Autistic Disorder - genetics Autistic Disorder - metabolism Child Child, Preschool Consanguinity Enzymes Epilepsy Epilepsy - complications Epilepsy - enzymology Epilepsy - genetics Epilepsy - metabolism Female Homozygote Humans Infant inflammation Intellectual disabilities intellectual disability Intellectual Disability - complications Intellectual Disability - enzymology Intellectual Disability - genetics Intellectual Disability - metabolism lipid LPIAT1 Lysophospholipids - metabolism Male MBOAT7 Membrane Proteins - genetics Membrane Proteins - metabolism Membranes Mutation Pedigree phosphatidylinositol Phosphatidylinositols - metabolism |
| title | Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-11T12%3A43%3A06IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutations%20in%20MBOAT7,%20Encoding%20Lysophosphatidylinositol%20Acyltransferase%20I,%20Lead%20to%20Intellectual%20Disability%20Accompanied%20by%20Epilepsy%20and%20Autistic%20Features&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Johansen,%20Anide&rft.date=2016-10-06&rft.volume=99&rft.issue=4&rft.spage=912&rft.epage=916&rft.pages=912-916&rft.issn=0002-9297&rft.eissn=1537-6605&rft_id=info:doi/10.1016/j.ajhg.2016.07.019&rft_dat=%3Cproquest_pubme%3E4237331301%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1835691831&rft_id=info:pmid/27616480&rft_els_id=S0002929716302932&rfr_iscdi=true |