Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al
Gespeichert in:
| Veröffentlicht in: | Human mutation 2017-05, Vol.38 (5), p.511-516 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 516 |
|---|---|
| container_issue | 5 |
| container_start_page | 511 |
| container_title | Human mutation |
| container_volume | 38 |
| creator | Kernohan, Kristin D. Dyment, David A. Pupavac, Mihaela Cramer, Zvi McBride, Arran Bernard, Genevieve Straub, Isabella Tetreault, Martine Hartley, Taila Huang, Lijia Sell, Erick Majewski, Jacek Rosenblatt, David S. Shoubridge, Eric Mhanni, Aziz Myers, Tara Proud, Virginia Vergano, Samanta Spangler, Brooke Farrow, Emily Kussman, Jennifer Safina, Nicole Saunders, Carol Boycott, Kym M. Thiffault, Isabelle |
| description | |
| doi_str_mv | 10.1002/humu.23196 |
| format | Article |
| fullrecord | <record><control><sourceid>crossref</sourceid><recordid>TN_cdi_crossref_primary_10_1002_humu_23196</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>10_1002_humu_23196</sourcerecordid><originalsourceid>FETCH-crossref_primary_10_1002_humu_231963</originalsourceid><addsrcrecordid>eNqVj01OwzAQhb0AifKz4QSzBKQUuyGULBEClQUsquyjqTNJBhy78jhIuQ8HpUFcgNWTnt77pE-pS6OXRuvVbT8O43KVm_L-SC2MLspsvS7vTtSpyIfW-qEo8oX6fsNk-wE_2XfQomXHCRMJpJ6gYex8EBYILaAHHFOQMKDLIlkS4S-CgVOwffBNZHSHhxAKgcVRqIHdBLtD7cixhWE8kDn4GTbT0_b9EVjCnnwiP7kU0UtLcf5fQbV9rQxcQ0eeztVxi07o4i_P1M3Lc_W0yWwMIpHaeh95wDjVRtezez2717_u-b_GPx5xZyM</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al</title><source>Access via Wiley Online Library</source><creator>Kernohan, Kristin D. ; Dyment, David A. ; Pupavac, Mihaela ; Cramer, Zvi ; McBride, Arran ; Bernard, Genevieve ; Straub, Isabella ; Tetreault, Martine ; Hartley, Taila ; Huang, Lijia ; Sell, Erick ; Majewski, Jacek ; Rosenblatt, David S. ; Shoubridge, Eric ; Mhanni, Aziz ; Myers, Tara ; Proud, Virginia ; Vergano, Samanta ; Spangler, Brooke ; Farrow, Emily ; Kussman, Jennifer ; Safina, Nicole ; Saunders, Carol ; Boycott, Kym M. ; Thiffault, Isabelle</creator><creatorcontrib>Kernohan, Kristin D. ; Dyment, David A. ; Pupavac, Mihaela ; Cramer, Zvi ; McBride, Arran ; Bernard, Genevieve ; Straub, Isabella ; Tetreault, Martine ; Hartley, Taila ; Huang, Lijia ; Sell, Erick ; Majewski, Jacek ; Rosenblatt, David S. ; Shoubridge, Eric ; Mhanni, Aziz ; Myers, Tara ; Proud, Virginia ; Vergano, Samanta ; Spangler, Brooke ; Farrow, Emily ; Kussman, Jennifer ; Safina, Nicole ; Saunders, Carol ; Boycott, Kym M. ; Thiffault, Isabelle ; Care4Rare Consortium</creatorcontrib><identifier>ISSN: 1059-7794</identifier><identifier>DOI: 10.1002/humu.23196</identifier><language>eng</language><ispartof>Human mutation, 2017-05, Vol.38 (5), p.511-516</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-crossref_primary_10_1002_humu_231963</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,27933,27934</link.rule.ids></links><search><creatorcontrib>Kernohan, Kristin D.</creatorcontrib><creatorcontrib>Dyment, David A.</creatorcontrib><creatorcontrib>Pupavac, Mihaela</creatorcontrib><creatorcontrib>Cramer, Zvi</creatorcontrib><creatorcontrib>McBride, Arran</creatorcontrib><creatorcontrib>Bernard, Genevieve</creatorcontrib><creatorcontrib>Straub, Isabella</creatorcontrib><creatorcontrib>Tetreault, Martine</creatorcontrib><creatorcontrib>Hartley, Taila</creatorcontrib><creatorcontrib>Huang, Lijia</creatorcontrib><creatorcontrib>Sell, Erick</creatorcontrib><creatorcontrib>Majewski, Jacek</creatorcontrib><creatorcontrib>Rosenblatt, David S.</creatorcontrib><creatorcontrib>Shoubridge, Eric</creatorcontrib><creatorcontrib>Mhanni, Aziz</creatorcontrib><creatorcontrib>Myers, Tara</creatorcontrib><creatorcontrib>Proud, Virginia</creatorcontrib><creatorcontrib>Vergano, Samanta</creatorcontrib><creatorcontrib>Spangler, Brooke</creatorcontrib><creatorcontrib>Farrow, Emily</creatorcontrib><creatorcontrib>Kussman, Jennifer</creatorcontrib><creatorcontrib>Safina, Nicole</creatorcontrib><creatorcontrib>Saunders, Carol</creatorcontrib><creatorcontrib>Boycott, Kym M.</creatorcontrib><creatorcontrib>Thiffault, Isabelle</creatorcontrib><creatorcontrib>Care4Rare Consortium</creatorcontrib><title>Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al</title><title>Human mutation</title><issn>1059-7794</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNqVj01OwzAQhb0AifKz4QSzBKQUuyGULBEClQUsquyjqTNJBhy78jhIuQ8HpUFcgNWTnt77pE-pS6OXRuvVbT8O43KVm_L-SC2MLspsvS7vTtSpyIfW-qEo8oX6fsNk-wE_2XfQomXHCRMJpJ6gYex8EBYILaAHHFOQMKDLIlkS4S-CgVOwffBNZHSHhxAKgcVRqIHdBLtD7cixhWE8kDn4GTbT0_b9EVjCnnwiP7kU0UtLcf5fQbV9rQxcQ0eeztVxi07o4i_P1M3Lc_W0yWwMIpHaeh95wDjVRtezez2717_u-b_GPx5xZyM</recordid><startdate>201705</startdate><enddate>201705</enddate><creator>Kernohan, Kristin D.</creator><creator>Dyment, David A.</creator><creator>Pupavac, Mihaela</creator><creator>Cramer, Zvi</creator><creator>McBride, Arran</creator><creator>Bernard, Genevieve</creator><creator>Straub, Isabella</creator><creator>Tetreault, Martine</creator><creator>Hartley, Taila</creator><creator>Huang, Lijia</creator><creator>Sell, Erick</creator><creator>Majewski, Jacek</creator><creator>Rosenblatt, David S.</creator><creator>Shoubridge, Eric</creator><creator>Mhanni, Aziz</creator><creator>Myers, Tara</creator><creator>Proud, Virginia</creator><creator>Vergano, Samanta</creator><creator>Spangler, Brooke</creator><creator>Farrow, Emily</creator><creator>Kussman, Jennifer</creator><creator>Safina, Nicole</creator><creator>Saunders, Carol</creator><creator>Boycott, Kym M.</creator><creator>Thiffault, Isabelle</creator><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>201705</creationdate><title>Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene</title><author>Kernohan, Kristin D. ; Dyment, David A. ; Pupavac, Mihaela ; Cramer, Zvi ; McBride, Arran ; Bernard, Genevieve ; Straub, Isabella ; Tetreault, Martine ; Hartley, Taila ; Huang, Lijia ; Sell, Erick ; Majewski, Jacek ; Rosenblatt, David S. ; Shoubridge, Eric ; Mhanni, Aziz ; Myers, Tara ; Proud, Virginia ; Vergano, Samanta ; Spangler, Brooke ; Farrow, Emily ; Kussman, Jennifer ; Safina, Nicole ; Saunders, Carol ; Boycott, Kym M. ; Thiffault, Isabelle</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-crossref_primary_10_1002_humu_231963</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kernohan, Kristin D.</creatorcontrib><creatorcontrib>Dyment, David A.</creatorcontrib><creatorcontrib>Pupavac, Mihaela</creatorcontrib><creatorcontrib>Cramer, Zvi</creatorcontrib><creatorcontrib>McBride, Arran</creatorcontrib><creatorcontrib>Bernard, Genevieve</creatorcontrib><creatorcontrib>Straub, Isabella</creatorcontrib><creatorcontrib>Tetreault, Martine</creatorcontrib><creatorcontrib>Hartley, Taila</creatorcontrib><creatorcontrib>Huang, Lijia</creatorcontrib><creatorcontrib>Sell, Erick</creatorcontrib><creatorcontrib>Majewski, Jacek</creatorcontrib><creatorcontrib>Rosenblatt, David S.</creatorcontrib><creatorcontrib>Shoubridge, Eric</creatorcontrib><creatorcontrib>Mhanni, Aziz</creatorcontrib><creatorcontrib>Myers, Tara</creatorcontrib><creatorcontrib>Proud, Virginia</creatorcontrib><creatorcontrib>Vergano, Samanta</creatorcontrib><creatorcontrib>Spangler, Brooke</creatorcontrib><creatorcontrib>Farrow, Emily</creatorcontrib><creatorcontrib>Kussman, Jennifer</creatorcontrib><creatorcontrib>Safina, Nicole</creatorcontrib><creatorcontrib>Saunders, Carol</creatorcontrib><creatorcontrib>Boycott, Kym M.</creatorcontrib><creatorcontrib>Thiffault, Isabelle</creatorcontrib><creatorcontrib>Care4Rare Consortium</creatorcontrib><collection>CrossRef</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kernohan, Kristin D.</au><au>Dyment, David A.</au><au>Pupavac, Mihaela</au><au>Cramer, Zvi</au><au>McBride, Arran</au><au>Bernard, Genevieve</au><au>Straub, Isabella</au><au>Tetreault, Martine</au><au>Hartley, Taila</au><au>Huang, Lijia</au><au>Sell, Erick</au><au>Majewski, Jacek</au><au>Rosenblatt, David S.</au><au>Shoubridge, Eric</au><au>Mhanni, Aziz</au><au>Myers, Tara</au><au>Proud, Virginia</au><au>Vergano, Samanta</au><au>Spangler, Brooke</au><au>Farrow, Emily</au><au>Kussman, Jennifer</au><au>Safina, Nicole</au><au>Saunders, Carol</au><au>Boycott, Kym M.</au><au>Thiffault, Isabelle</au><aucorp>Care4Rare Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al</atitle><jtitle>Human mutation</jtitle><date>2017-05</date><risdate>2017</risdate><volume>38</volume><issue>5</issue><spage>511</spage><epage>516</epage><pages>511-516</pages><issn>1059-7794</issn><doi>10.1002/humu.23196</doi></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1059-7794 |
| ispartof | Human mutation, 2017-05, Vol.38 (5), p.511-516 |
| issn | 1059-7794 |
| language | eng |
| recordid | cdi_crossref_primary_10_1002_humu_23196 |
| source | Access via Wiley Online Library |
| title | Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-02T22%3A57%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-crossref&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Matchmaking%20facilitates%20the%20diagnosis%20of%20an%20autosomal-recessive%20mitochondrial%20disease%20caused%20by%20biallelic%20mutation%20of%20the%20tRNA%20isopentenyltransferase%20(%20TRIT1%20)%20gene:%20KERNOHAN%20et%20al&rft.jtitle=Human%20mutation&rft.au=Kernohan,%20Kristin%20D.&rft.aucorp=Care4Rare%20Consortium&rft.date=2017-05&rft.volume=38&rft.issue=5&rft.spage=511&rft.epage=516&rft.pages=511-516&rft.issn=1059-7794&rft_id=info:doi/10.1002/humu.23196&rft_dat=%3Ccrossref%3E10_1002_humu_23196%3C/crossref%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true |