Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families

Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Congenital anomalies 2019-09, Vol.59 (5), p.179-180
Hauptverfasser: Ijaz, Ambreen, Jelani, Musharraf, Panezai, Anila, Rabbani, Tahmina, Rasool, Iftikhar A., Ahmad, Jamil, Wali, Abdul
Format: Artikel
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 180
container_issue 5
container_start_page 179
container_title Congenital anomalies
container_volume 59
creator Ijaz, Ambreen
Jelani, Musharraf
Panezai, Anila
Rabbani, Tahmina
Rasool, Iftikhar A.
Ahmad, Jamil
Wali, Abdul
description
doi_str_mv 10.1111/cga.12311
format Article
fullrecord <record><control><sourceid>wiley</sourceid><recordid>TN_cdi_wiley_primary_10_1111_cga_12311_CGA12311</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>CGA12311</sourcerecordid><originalsourceid>FETCH-wiley_primary_10_1111_cga_12311_CGA123113</originalsourceid><addsrcrecordid>eNqVj0tOwzAQhi0EEuGx4AZzgbR2Hq1YlqrAooINC3bWKJk0gxw7st1UuQHHxlRcgNFI8y_-T6NPiAclFyrNsjngQhWlUhciU-tK5VVdyEuRyUdV5WUt62txE8KXlMVqtZaZ-H5zExlgG8hHdhbQtoAweprYHYOZwdPofKQWrEultDChZ7QRXAeb_fvnroQDWQJD2EJ0gMfoghvQJLShEHgi4KaP_ewCh_QK4snBExrX9AwdDmyYwp246tAEuv-7t2L5vPvYvuYnNjTr0fOAftZK6l9PnTz12VNvXzbnUP6f-AESS16s</addsrcrecordid><sourcetype>Publisher</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families</title><source>Wiley Online Library - AutoHoldings Journals</source><creator>Ijaz, Ambreen ; Jelani, Musharraf ; Panezai, Anila ; Rabbani, Tahmina ; Rasool, Iftikhar A. ; Ahmad, Jamil ; Wali, Abdul</creator><creatorcontrib>Ijaz, Ambreen ; Jelani, Musharraf ; Panezai, Anila ; Rabbani, Tahmina ; Rasool, Iftikhar A. ; Ahmad, Jamil ; Wali, Abdul</creatorcontrib><identifier>ISSN: 0914-3505</identifier><identifier>EISSN: 1741-4520</identifier><identifier>DOI: 10.1111/cga.12311</identifier><language>eng</language><publisher>Kyoto, Japan: John Wiley &amp; Sons Australia, Ltd</publisher><ispartof>Congenital anomalies, 2019-09, Vol.59 (5), p.179-180</ispartof><rights>2018 Japanese Teratology Society</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><orcidid>0000-0001-8818-5369</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.12311$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fcga.12311$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids></links><search><creatorcontrib>Ijaz, Ambreen</creatorcontrib><creatorcontrib>Jelani, Musharraf</creatorcontrib><creatorcontrib>Panezai, Anila</creatorcontrib><creatorcontrib>Rabbani, Tahmina</creatorcontrib><creatorcontrib>Rasool, Iftikhar A.</creatorcontrib><creatorcontrib>Ahmad, Jamil</creatorcontrib><creatorcontrib>Wali, Abdul</creatorcontrib><title>Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families</title><title>Congenital anomalies</title><issn>0914-3505</issn><issn>1741-4520</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid/><recordid>eNqVj0tOwzAQhi0EEuGx4AZzgbR2Hq1YlqrAooINC3bWKJk0gxw7st1UuQHHxlRcgNFI8y_-T6NPiAclFyrNsjngQhWlUhciU-tK5VVdyEuRyUdV5WUt62txE8KXlMVqtZaZ-H5zExlgG8hHdhbQtoAweprYHYOZwdPofKQWrEultDChZ7QRXAeb_fvnroQDWQJD2EJ0gMfoghvQJLShEHgi4KaP_ewCh_QK4snBExrX9AwdDmyYwp246tAEuv-7t2L5vPvYvuYnNjTr0fOAftZK6l9PnTz12VNvXzbnUP6f-AESS16s</recordid><startdate>201909</startdate><enddate>201909</enddate><creator>Ijaz, Ambreen</creator><creator>Jelani, Musharraf</creator><creator>Panezai, Anila</creator><creator>Rabbani, Tahmina</creator><creator>Rasool, Iftikhar A.</creator><creator>Ahmad, Jamil</creator><creator>Wali, Abdul</creator><general>John Wiley &amp; Sons Australia, Ltd</general><scope/><orcidid>https://orcid.org/0000-0001-8818-5369</orcidid></search><sort><creationdate>201909</creationdate><title>Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families</title><author>Ijaz, Ambreen ; Jelani, Musharraf ; Panezai, Anila ; Rabbani, Tahmina ; Rasool, Iftikhar A. ; Ahmad, Jamil ; Wali, Abdul</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-wiley_primary_10_1111_cga_12311_CGA123113</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ijaz, Ambreen</creatorcontrib><creatorcontrib>Jelani, Musharraf</creatorcontrib><creatorcontrib>Panezai, Anila</creatorcontrib><creatorcontrib>Rabbani, Tahmina</creatorcontrib><creatorcontrib>Rasool, Iftikhar A.</creatorcontrib><creatorcontrib>Ahmad, Jamil</creatorcontrib><creatorcontrib>Wali, Abdul</creatorcontrib><jtitle>Congenital anomalies</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ijaz, Ambreen</au><au>Jelani, Musharraf</au><au>Panezai, Anila</au><au>Rabbani, Tahmina</au><au>Rasool, Iftikhar A.</au><au>Ahmad, Jamil</au><au>Wali, Abdul</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families</atitle><jtitle>Congenital anomalies</jtitle><date>2019-09</date><risdate>2019</risdate><volume>59</volume><issue>5</issue><spage>179</spage><epage>180</epage><pages>179-180</pages><issn>0914-3505</issn><eissn>1741-4520</eissn><cop>Kyoto, Japan</cop><pub>John Wiley &amp; Sons Australia, Ltd</pub><doi>10.1111/cga.12311</doi><tpages>2</tpages><orcidid>https://orcid.org/0000-0001-8818-5369</orcidid></addata></record>
fulltext fulltext
identifier ISSN: 0914-3505
ispartof Congenital anomalies, 2019-09, Vol.59 (5), p.179-180
issn 0914-3505
1741-4520
language eng
recordid cdi_wiley_primary_10_1111_cga_12311_CGA12311
source Wiley Online Library - AutoHoldings Journals
title Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-01T11%3A59%3A20IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-wiley&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Novel%20insertion%20and%20a%20previously%20reported%20nonsense%20variant%20of%20ALOXE3%20gene%20lead%20to%20autosomal%20recessive%20ichthyosis%20in%20two%20Balochi%20families&rft.jtitle=Congenital%20anomalies&rft.au=Ijaz,%20Ambreen&rft.date=2019-09&rft.volume=59&rft.issue=5&rft.spage=179&rft.epage=180&rft.pages=179-180&rft.issn=0914-3505&rft.eissn=1741-4520&rft_id=info:doi/10.1111/cga.12311&rft_dat=%3Cwiley%3ECGA12311%3C/wiley%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