Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Hum Genet
.
2010 Jan;127(1):116-7.
Authors
Marta García
1
,
M J Escamez
,
N Cuadrado-Corrales
,
C Sánchez-Jimeno
,
N Illera
,
M A López-Martínez
,
M J Trujillo-Tiebas
,
C Ayuso
,
M Del Río
Affiliation
1
Regenerative Medicine Unit, CIEMAT-CIBERER, Av Complutense, 22, 28040, Madrid, Spain. marta.garcia@ciemat.es
PMID:
20108428
No abstract available
MeSH terms
Adult
Codon / genetics
Collagen Type VII / genetics*
Epidermolysis Bullosa Dystrophica / genetics*
Female
Genes, Recessive
Humans
Mutation, Missense*
Spain
Substances
Codon
Collagen Type VII