Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus

Analysis of Human Genetic Linkage.

A. W. F. Edwards, J Ott · Biometrics · 1992 · 1.7K citations

Life Sciences, Biostatistics, Genetics +17

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

Brenda Richards, Joel Skoletsky, Anthony P. Shuber et al. · Human Molecular Genetics · 1993 · 414 citations

Medicine, Genetics, Molecular Genetics +15

Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis

Joseph A. Rothnagel, Andrea Dominey, L. D. Dempsey et al. · Science · 1992 · 373 citations

Life Sciences, Dermatology, Genetics +14

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

W.H. Irwin McLean, E.L. Rugg, Declan P. Lunny et al. · Nature Genetics · 1995 · 354 citations

Life Sciences, Genetics, Molecular Genetics +9

Analysis of human genetic linkage

Alexander F. Wilson · Mathematical Biosciences · 1986 · 299 citations

Life Sciences, Genetics, Molecular Genetics +11