Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
García
Marta
M
Regenerative Medicine Unit, CIEMAT-CIBERER, Av Complutense, 22, 28040, Madrid, Spain. marta.garcia@ciemat.es
Escamez
M J
MJ
Cuadrado-Corrales
N
N
Sánchez-Jimeno
C
C
Illera
N
N
López-Martínez
M A
MA
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
Del Río
M
M
D000328:Adult; D003062:Codon / Q000235:genetics; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D020125:Mutation, Missense; D013030:Spain
D003062:Codon; D024143:Collagen Type VII