Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic.
Cuadrado-Corrales
Natividad
N
García
M
M
Escámez
M J
MJ
Sánchez-Jimeno
C
C
Illera
N
N
López-Martínez
M A
MA
Trujillo-Tieba
M J
MJ
Ayuso
C
C
Del Río
M
M
D000293:Adolescent; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017384:Sequence Deletion; D013030:Spain
D003062:Codon; D024143:Collagen Type VII