Guy G. Hoffman

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Angela M. Christiano, Daniel S. Greenspan, Guy G. Hoffman et al. · Nature Genetics · 1993 · 197 citations

Medicine, Genetics, Molecular Genetics +10

Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized Gene

Angela M. Christiano, Guy G. Hoffman, Linda C. Chung‐Honet et al. · Genomics · 1994 · 189 citations

Medicine, Genetics, Molecular Genetics +11

Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)

Ulrike Schwarze, Mary Atkinson, Guy G. Hoffman et al. · The American Journal of Human Genetics · 2000 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

Angela M. Christiano, Guy G. Hoffman, Xin Zhang et al. · Human Mutation · 1997 · 116 citations

Medicine, Genetics, Molecular Genetics +15

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Kazuhiko Takahara, Ulrike Schwarze, Yasutada Imamura et al. · The American Journal of Human Genetics · 2002 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12