Jouni Uitto

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

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

Cloning of Full-length Elastin cDNAs from a Human Skin Fibroblast Recombinant cDNA Library: Further Elucidation of Alternative Splicing Utilizing Exon-specific Oligonucleotides

Michael Fazio, David R. Olsen, Eunkyung Kauh et al. · Journal of Investigative Dermatology · 1988 · 101 citations

Life Sciences, Genetics, Molecular Biology +9

Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

Leena Pulkkinen, Donald R. Gerecke, Angela M. Christiano et al. · Genomics · 1995 · 60 citations

Life Sciences, Genetics, Molecular Biology +6

Premature Termination Codons Are Present on Both Alleles of the Bullous Pemphigoid Antigen 2/Type XVII Collagen Gene in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa

Thomas N. Darling, John A. McGrath, Carole Yee et al. · Journal of Investigative Dermatology · 1997 · 51 citations · Full text

Medicine, Dermatology, Genetics +14