Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

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Bibliographic Details
Published inHuman genetics Vol. 127; no. 1; pp. 116 - 117
Main Authors García, Marta, Escamez, M J, Cuadrado-Corrales, N, Sánchez-Jimeno, C, Illera, N, López-Martínez, M A, Trujillo-Tiebas, M J, Ayuso, C, Del Río, M
Format Journal Article
LanguageEnglish
Published Germany 01.01.2010
Subjects
Adult
Codon - genetics
Collagen Type VII - genetics
Epidermolysis Bullosa Dystrophica - genetics
Female
Genes, Recessive
Humans
Mutation, Missense
Spain
Spain
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ISSN:1432-1203