A Common Keratin 5 Gene Mutation in Epidermolysis Bullosa Simplex–Weber-Cockayne

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

A routine method for the establishment of permanent growing lymphoblastoid cell lines

Heidemarie Neitzel · Human Genetics · 1986 · 647 citations

Life Sciences, Cell Biology, Molecular Biology +13

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 human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.

Yee-Ming Chan, I. Anton‐Lamprecht, Q C Yu et al. · Genes & Development · 1994 · 200 citations · Full text

Medicine, Dermatology, Molecular Genetics +13

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