(Q77519468)
Statements
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa (English)
Terracina M
Posteraro P
Schubert M
Sonego G
Atzori F
Zambruno G
Bruckner-Tuderman L
1 November 1998