Angela M. Christiano

A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

Leena Pulkkinen, Angela M. Christiano, Donald R. Gerecke et al. · Genomics · 1994 · 224 citations

Life Sciences, Genetics, Molecular Genetics +9

A homozygous nonsense mutation in the  3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Sirpa Kivirikko, John A. McGrath, C. Baudoin et al. · Human Molecular Genetics · 1995 · 178 citations

Medicine, Genetics, Pathology +14

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 et al. · The American Journal of Human Genetics · 1997 · 166 citations · Full text

Medicine, Genetics, Molecular Genetics +8

The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope

Akemi Ishida‐Yamamoto, John A. McGrath, HaMut Lam et al. · The American Journal of Human Genetics · 1997 · 156 citations · Full text

Medicine, Dermatology, Genetics +11

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

Angela M. Christiano, Markku Ryynänen, Jouni Uitto · Proceedings of the National Academy of Sciences · 1994 · 136 citations

Medicine, Dermatology, Genetics +14