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, Élisabeth Petit, Caroline Rivers, Cathérine Prost, Sylvie Fraitag, Angela M. Christiano, Jouni Uitto, Mark Lathrop,

The American Journal of Human Genetics · 1997 · 166 citations · 57 references

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