Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Hum Genet
.
2010 Jan;127(1):120-1.
Authors
Marta García
1
,
M J Escamez
,
N Cuadrado-Corrales
,
N Illera
,
C Sánchez Jimeno
,
C Vélez
,
M J Trujillo-Tiebas
,
C Ayuso
,
M Del Río
Affiliation
1
Regenerative Medicine Unit, CIEMAT-CIBERER, Av Complutense, 22, 28040, Madrid, Spain.
[email protected]
PMID:
20108398
No abstract available
MeSH terms
Collagen Type VII / genetics*
Epidermolysis Bullosa Dystrophica / genetics*
Genes, Recessive
Humans
Introns / genetics
Point Mutation*
Spanien
Substances
Collagen Type VII