Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia
Gespeichert in:
| Veröffentlicht in: | Congenital anomalies 2018-01, Vol.58 (1), p.39-40 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 40 |
|---|---|
| container_issue | 1 |
| container_start_page | 39 |
| container_title | Congenital anomalies |
| container_volume | 58 |
| creator | Al‐Aama, Jumana Yousuf Al‐Zahrani, Hams Saeed Jelani, Musharraf Sabir, Hesham Salih Al‐Saeedi, Saad Abdullah Ahmed, Saleem |
| description | |
| doi_str_mv | 10.1111/cga.12217 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1870646104</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1870646104</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4787-5b91b7f2c4d2b2eb120450bb08dfccfab4fce700eb65d6135b17d113366978943</originalsourceid><addsrcrecordid>eNp10cFO3DAQBmALFcFCe-AFKku9wCEw4zh2clytgCIQSLRVj5btOCsjJ97GCWh76iP0GfskzbLQQyXmMpdvfo30E3KEcIrTnNmlPkXGUO6QGUqOGS8YvCMzqJBneQHFPjlI6QGACSFhj-yzkjEouJiRn7fx0QWaVsFbR5MfHG3HQQ8-dtR39Pzqgs2vc7p0naNWj8kl-j0GG4fhz6_f9zoEnyaZ1l3dx9ZtTjS1sUu6W46-c3FMtNGtD2vaTIB-0WPt6bzXxuv3ZLfRIbkPL_uQfLs4_7r4nN3cXV4t5jeZ5bKUWWEqNLJhltfMMGeQAS_AGCjrxtpGG95YJwGcEUUtMC8Myhoxz4WoZFnx_JAcb3NXffwxujSo1ifrQtDP_yksJQguEDb003_0IY59N32nsCpzLAUATupkq2wfU-pdo1a9b3W_VghqU4iaClHPhUz240viaFpX_5OvDUzgbAuefHDrt5PU4nK-jfwL0P6U7w</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1983186001</pqid></control><display><type>article</type><title>Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><creator>Al‐Aama, Jumana Yousuf ; Al‐Zahrani, Hams Saeed ; Jelani, Musharraf ; Sabir, Hesham Salih ; Al‐Saeedi, Saad Abdullah ; Ahmed, Saleem</creator><creatorcontrib>Al‐Aama, Jumana Yousuf ; Al‐Zahrani, Hams Saeed ; Jelani, Musharraf ; Sabir, Hesham Salih ; Al‐Saeedi, Saad Abdullah ; Ahmed, Saleem</creatorcontrib><identifier>ISSN: 0914-3505</identifier><identifier>EISSN: 1741-4520</identifier><identifier>DOI: 10.1111/cga.12217</identifier><identifier>PMID: 28220546</identifier><language>eng</language><publisher>Australia: Wiley Subscription Services, Inc</publisher><subject>Adolescent ; Base Sequence ; Consanguinity ; Diabetes Mellitus, Type 1 - diagnosis ; Diabetes Mellitus, Type 1 - genetics ; Diabetes Mellitus, Type 1 - pathology ; DNA Mutational Analysis ; eIF-2 Kinase - genetics ; EIF2AK3 gene ; Epiphyses - abnormalities ; Epiphyses - pathology ; Exons ; Female ; Gene Expression ; Humans ; Introns ; Male ; Mutation ; Osteochondrodysplasias - diagnosis ; Osteochondrodysplasias - genetics ; Osteochondrodysplasias - pathology ; Saudi Arabia</subject><ispartof>Congenital anomalies, 2018-01, Vol.58 (1), p.39-40</ispartof><rights>2017 Japanese Teratology Society</rights><rights>2018 Japanese Teratology Society</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4787-5b91b7f2c4d2b2eb120450bb08dfccfab4fce700eb65d6135b17d113366978943</citedby><cites>FETCH-LOGICAL-c4787-5b91b7f2c4d2b2eb120450bb08dfccfab4fce700eb65d6135b17d113366978943</cites><orcidid>0000-0002-3421-0079</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fcga.12217$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fcga.12217$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28220546$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al‐Aama, Jumana Yousuf</creatorcontrib><creatorcontrib>Al‐Zahrani, Hams Saeed</creatorcontrib><creatorcontrib>Jelani, Musharraf</creatorcontrib><creatorcontrib>Sabir, Hesham Salih</creatorcontrib><creatorcontrib>Al‐Saeedi, Saad Abdullah</creatorcontrib><creatorcontrib>Ahmed, Saleem</creatorcontrib><title>Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia</title><title>Congenital anomalies</title><addtitle>Congenit Anom (Kyoto)</addtitle><subject>Adolescent</subject><subject>Base Sequence</subject><subject>Consanguinity</subject><subject>Diabetes Mellitus, Type 1 - diagnosis</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>Diabetes Mellitus, Type 1 - pathology</subject><subject>DNA Mutational Analysis</subject><subject>eIF-2 Kinase - genetics</subject><subject>EIF2AK3 gene</subject><subject>Epiphyses - abnormalities</subject><subject>Epiphyses - pathology</subject><subject>Exons</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Humans</subject><subject>Introns</subject><subject>Male</subject><subject>Mutation</subject><subject>Osteochondrodysplasias - diagnosis</subject><subject>Osteochondrodysplasias - genetics</subject><subject>Osteochondrodysplasias - pathology</subject><subject>Saudi Arabia</subject><issn>0914-3505</issn><issn>1741-4520</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10cFO3DAQBmALFcFCe-AFKku9wCEw4zh2clytgCIQSLRVj5btOCsjJ97GCWh76iP0GfskzbLQQyXmMpdvfo30E3KEcIrTnNmlPkXGUO6QGUqOGS8YvCMzqJBneQHFPjlI6QGACSFhj-yzkjEouJiRn7fx0QWaVsFbR5MfHG3HQQ8-dtR39Pzqgs2vc7p0naNWj8kl-j0GG4fhz6_f9zoEnyaZ1l3dx9ZtTjS1sUu6W46-c3FMtNGtD2vaTIB-0WPt6bzXxuv3ZLfRIbkPL_uQfLs4_7r4nN3cXV4t5jeZ5bKUWWEqNLJhltfMMGeQAS_AGCjrxtpGG95YJwGcEUUtMC8Myhoxz4WoZFnx_JAcb3NXffwxujSo1ifrQtDP_yksJQguEDb003_0IY59N32nsCpzLAUATupkq2wfU-pdo1a9b3W_VghqU4iaClHPhUz240viaFpX_5OvDUzgbAuefHDrt5PU4nK-jfwL0P6U7w</recordid><startdate>201801</startdate><enddate>201801</enddate><creator>Al‐Aama, Jumana Yousuf</creator><creator>Al‐Zahrani, Hams Saeed</creator><creator>Jelani, Musharraf</creator><creator>Sabir, Hesham Salih</creator><creator>Al‐Saeedi, Saad Abdullah</creator><creator>Ahmed, Saleem</creator><general>Wiley Subscription Services, Inc</general><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>7U7</scope><scope>C1K</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-3421-0079</orcidid></search><sort><creationdate>201801</creationdate><title>Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia</title><author>Al‐Aama, Jumana Yousuf ; Al‐Zahrani, Hams Saeed ; Jelani, Musharraf ; Sabir, Hesham Salih ; Al‐Saeedi, Saad Abdullah ; Ahmed, Saleem</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4787-5b91b7f2c4d2b2eb120450bb08dfccfab4fce700eb65d6135b17d113366978943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adolescent</topic><topic>Base Sequence</topic><topic>Consanguinity</topic><topic>Diabetes Mellitus, Type 1 - diagnosis</topic><topic>Diabetes Mellitus, Type 1 - genetics</topic><topic>Diabetes Mellitus, Type 1 - pathology</topic><topic>DNA Mutational Analysis</topic><topic>eIF-2 Kinase - genetics</topic><topic>EIF2AK3 gene</topic><topic>Epiphyses - abnormalities</topic><topic>Epiphyses - pathology</topic><topic>Exons</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Humans</topic><topic>Introns</topic><topic>Male</topic><topic>Mutation</topic><topic>Osteochondrodysplasias - diagnosis</topic><topic>Osteochondrodysplasias - genetics</topic><topic>Osteochondrodysplasias - pathology</topic><topic>Saudi Arabia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Al‐Aama, Jumana Yousuf</creatorcontrib><creatorcontrib>Al‐Zahrani, Hams Saeed</creatorcontrib><creatorcontrib>Jelani, Musharraf</creatorcontrib><creatorcontrib>Sabir, Hesham Salih</creatorcontrib><creatorcontrib>Al‐Saeedi, Saad Abdullah</creatorcontrib><creatorcontrib>Ahmed, Saleem</creatorcontrib><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>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Congenital anomalies</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al‐Aama, Jumana Yousuf</au><au>Al‐Zahrani, Hams Saeed</au><au>Jelani, Musharraf</au><au>Sabir, Hesham Salih</au><au>Al‐Saeedi, Saad Abdullah</au><au>Ahmed, Saleem</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia</atitle><jtitle>Congenital anomalies</jtitle><addtitle>Congenit Anom (Kyoto)</addtitle><date>2018-01</date><risdate>2018</risdate><volume>58</volume><issue>1</issue><spage>39</spage><epage>40</epage><pages>39-40</pages><issn>0914-3505</issn><eissn>1741-4520</eissn><cop>Australia</cop><pub>Wiley Subscription Services, Inc</pub><pmid>28220546</pmid><doi>10.1111/cga.12217</doi><tpages>2</tpages><orcidid>https://orcid.org/0000-0002-3421-0079</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0914-3505 |
| ispartof | Congenital anomalies, 2018-01, Vol.58 (1), p.39-40 |
| issn | 0914-3505 1741-4520 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1870646104 |
| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Adolescent Base Sequence Consanguinity Diabetes Mellitus, Type 1 - diagnosis Diabetes Mellitus, Type 1 - genetics Diabetes Mellitus, Type 1 - pathology DNA Mutational Analysis eIF-2 Kinase - genetics EIF2AK3 gene Epiphyses - abnormalities Epiphyses - pathology Exons Female Gene Expression Humans Introns Male Mutation Osteochondrodysplasias - diagnosis Osteochondrodysplasias - genetics Osteochondrodysplasias - pathology Saudi Arabia |
| title | Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-13T00%3A28%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Novel%20splice%20site%20mutation%20in%20EIF2AK3%20gene%20causes%20Wolcott%E2%80%90Rallison%20syndrome%20in%20a%20consanguineous%20family%20from%20Saudi%20Arabia&rft.jtitle=Congenital%20anomalies&rft.au=Al%E2%80%90Aama,%20Jumana%20Yousuf&rft.date=2018-01&rft.volume=58&rft.issue=1&rft.spage=39&rft.epage=40&rft.pages=39-40&rft.issn=0914-3505&rft.eissn=1741-4520&rft_id=info:doi/10.1111/cga.12217&rft_dat=%3Cproquest_cross%3E1870646104%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1983186001&rft_id=info:pmid/28220546&rfr_iscdi=true |