Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
Escámez
María José
MJ
Regenerative Medicine Unit, CIEMAT-CIBERER, Av. Complutnese, 22, 28040, Madrid, Spain. mariajose.escamez@ciemat.es
Cuadrado-Corrales
N
N
García
M
M
Sanchez-Jimeno
C
C
Illera
N
N
López-Martínez
M A
MA
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
Del Río
M
M
D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D017353:Gene Deletion; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D013030:Spain
D003062:Codon; D024143:Collagen Type VII