Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
Cuadrado-Corrales
Natividad
N
Epithelial Biomedicine Division, CIEMAT-CIBERER, Madrid, Spain. natividad.cuadrado@ciemat.es
Garcia
M
M
Escamez
M J
MJ
Carrillo
A
A
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
Del Rio
M
M
D001483:Base Sequence; D003062:Codon; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D013030:Spain
D003062:Codon; D024143:Collagen Type VII; D009711:Nucleotides