J. R. McMillan

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Frances J.D. Smith, Robin A.J. Eady, I.M. Leigh et al. · Nature Genetics · 1996 · 391 citations

Medicine, Pathobiology, Molecular Pathology +8

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

W.H. Irwin McLean, Lea Pulkkinen, F.J. Smith et al. · Genes & Development · 1996 · 302 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

A functional "knockout" of human keratin 14.

E.L. Rugg, W.H. Irwin McLean, E. Birgitte Lane et al. · Genes & Development · 1994 · 177 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

John A. McGrath, Biljana Gatalica, K. Li et al. · PubMed · 1996 · 106 citations

Life Sciences, Genetics, Molecular Genetics +13