Patricia J.C. Dopping-Hepenstal

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

Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

Tracy Wong, Luke Gammon, Lu Liu et al. · Journal of Investigative Dermatology · 2008 · 249 citations · Full text

Medicine, Cell Biology, Dermatology +7

LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum

Akemi Ishida‐Yamamoto, Céline Deraison, Chrystelle Bonnart et al. · Journal of Investigative Dermatology · 2005 · 160 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +3

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Neil V. Whittock, G H S Ashton, Patricia J.C. Dopping-Hepenstal et al. · Journal of Investigative Dermatology · 1999 · 151 citations · Full text

Medicine, Dermatology, Molecular Medicine +9

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Richard Groves, Lu Liu, Patricia J.C. Dopping-Hepenstal et al. · Journal of Investigative Dermatology · 2010 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11