Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1

PCR protocols — A guide to methods and applications

Trends in Genetics · 1990 · 11.9K citations

Medicine, Molecular Biology, Molecular Genetics +6

PCR protocols — A guide to methods and applications

U.G. · Trends in Biochemical Sciences · 1990 · 11.8K citations

Medicine, Molecular Biology, Molecular Genetics +6

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

Pierre A. Coulombe, M. Elizabeth Hutton, Anthony Letal et al. · Cell · 1991 · 656 citations

Medicine, Genetics, Molecular Genetics +10

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

J. M. Bonifas, ALANA L. ROTHMAN, E Epstein · Science · 1991 · 428 citations

Medicine, Dermatology, Genetics +14

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

E. Birgitte Lane, E.L. Rugg, Harshad Navsaria et al. · Nature · 1992 · 411 citations

Medicine, Dermatology, Genetics +8