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
Hauptverfasser: 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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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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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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