Characterization of 18 New Mutations in COL7A1 in Recessive...

The American Journal of Human Genetics 1997 Vol. 61; Iss. 3

Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation

Alain Hovnanian, Ariane Rochat, Christine Bodemer, Elisabeth Petit, Caroline A. Rivers, Catherine Prost, Sylvie Fraitag, Angela M. Christiano, Jouni Uitto, Mark Lathrop, Yann Barrandon, Yves de Prost
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Volume:
61
Year:
1997
Language:
english
DOI:
10.1086/515495
File:
PDF, 771 KB
english, 1997
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