Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome
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Veröffentlicht in: | American journal of human genetics 2002, Vol.70 (5), p.1341-1348 |
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container_title | American journal of human genetics |
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creator | RICHARD, Gabriele ROUAN, Fatima RUSSELL, Laura WILLOUGHBY, Colin E BROWN, Nkecha CHUNG, Pil RYYNÄNEN, Markku JABS, Ethylin Wang BALE, Sherri J DIGIOVANNA, John J UITTO, Jouni |
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ispartof | American journal of human genetics, 2002, Vol.70 (5), p.1341-1348 |
issn | 0002-9297 1537-6605 |
language | eng |
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source | Cell Press Free Archives; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals; PubMed Central |
subjects | Biological and medical sciences Dermatology Hair and nails disorders Medical sciences |
title | Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome |
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