Mutations in the H1 and 1A Domains in the Keratin 1 Gene in Epidermolytic Hyperkeratosis

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

The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes

Jian Cheng, Andrew J. Syder, Qian-Chun Yu et al. · Cell · 1992 · 344 citations

Medicine, Genetics, Molecular Genetics +9

A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

Constantin C. Chipev, Bernhard Korge, Nedialka G. Markova et al. · Cell · 1992 · 282 citations

Medicine, Dermatology, Molecular Genetics +3

Keratin Intermediate Filament Structure

Peter M. Steinert, Lyuben N. Marekov, Russell Fraser et al. · Journal of Molecular Biology · 1993 · 262 citations

Life Sciences, Cell Biology, Molecular Biology +12

PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes.

Steve S. Sommer, A R Groszbach, C. D. K. Bottema · PubMed · 1992 · 211 citations

Life Sciences, Genetics, Molecular Genetics +17