(Q61894124)
Statements
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa (English)
Ruzzi L
Posteraro P
Mazzanti C
Didona B
Owaribe K
Zambruno G
Castiglia D