A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family
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Veröffentlicht in: | British journal of dermatology (1951) 2010-10, Vol.163 (4), p.886-889 |
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container_title | British journal of dermatology (1951) |
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creator | Ding, Y.G. Wang, J.Y. Qiao, J.J. Mao, X.H. Cai, S.Q. |
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doi_str_mv | 10.1111/j.1365-2133.2010.09890.x |
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Wang, J.Y. ; Qiao, J.J. ; Mao, X.H. ; Cai, S.Q.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3550-46377f6d88bfe931fff212c10552d6987f762531758810c1e7fc2eec620f54803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adult</topic><topic>Alopecia - genetics</topic><topic>alopecia and photophobia) syndrome</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Dermatology</topic><topic>Dyskeratosis</topic><topic>Female</topic><topic>Hair and nails disorders</topic><topic>Humans</topic><topic>Ichthyosis - genetics</topic><topic>IFAP (ichthyosis follicularis</topic><topic>IFAP (ichthyosis follicularis, alopecia and photophobia) syndrome</topic><topic>Male</topic><topic>MBTPS2</topic><topic>Medical sciences</topic><topic>Metalloendopeptidases - genetics</topic><topic>mutation</topic><topic>Pedigree</topic><topic>Photophobia - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ding, Y.G.</creatorcontrib><creatorcontrib>Wang, J.Y.</creatorcontrib><creatorcontrib>Qiao, J.J.</creatorcontrib><creatorcontrib>Mao, X.H.</creatorcontrib><creatorcontrib>Cai, S.Q.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><jtitle>British journal of dermatology (1951)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ding, Y.G.</au><au>Wang, J.Y.</au><au>Qiao, J.J.</au><au>Mao, X.H.</au><au>Cai, S.Q.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family</atitle><jtitle>British journal of dermatology (1951)</jtitle><addtitle>Br J Dermatol</addtitle><date>2010-10</date><risdate>2010</risdate><volume>163</volume><issue>4</issue><spage>886</spage><epage>889</epage><pages>886-889</pages><issn>0007-0963</issn><eissn>1365-2133</eissn><coden>BJDEAZ</coden><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>20854407</pmid><doi>10.1111/j.1365-2133.2010.09890.x</doi><tpages>4</tpages></addata></record> |
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ispartof | British journal of dermatology (1951), 2010-10, Vol.163 (4), p.886-889 |
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language | eng |
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source | MEDLINE; Wiley Journals; Oxford University Press Journals All Titles (1996-Current) |
subjects | Adult Alopecia - genetics alopecia and photophobia) syndrome Biological and medical sciences Child Dermatology Dyskeratosis Female Hair and nails disorders Humans Ichthyosis - genetics IFAP (ichthyosis follicularis IFAP (ichthyosis follicularis, alopecia and photophobia) syndrome Male MBTPS2 Medical sciences Metalloendopeptidases - genetics mutation Pedigree Photophobia - genetics Syndrome |
title | A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family |
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