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The Journal of Investigative Dermatology|February 1, 1997
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplexF J Smith, L D Corden, E L Rugg, et al.
The British Journal of Dermatology|April 1, 1997
Treatment of psoriasis with intermittent short course cyclosporin (Neoral). A multicentre studyJ Berth-Jones, C A Henderson, C S Munro, et al.
Human Molecular Genetics|April 18, 2000
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pumpR Sudbrak, J Brown, C Dobson-Stone, et al.
The Journal of General Virology|January 7, 2020
Characterization of ranaviruses isolated from lumpfish Cyclopterus lumpus L. in the North Atlantic area: proposal for a new ranavirus species (European North Atlantic Ranavirus)Hannah E B Stagg, Sigríður Guðmundsdóttir, Niccolò Vendramin, et al.
American Journal of Human Genetics|July 9, 2013
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratodermaDiana C Blaydon, Lisbet K Lind, Vincent Plagnol, et al.
Nature Genetics|March 18, 1999
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier diseaseA Sakuntabhai, V Ruiz-Perez, S Carter, et al.
American Journal of Human Genetics|July 27, 1999
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencingM van Steensel, F J Smith, P M Steijlen, et al.
The Journal of Investigative Dermatology. Symposium Proceedings|October 28, 2005
The genetic basis of pachyonychia congenitaFrances J D Smith, Haihui Liao, Andrew J Cassidy, et al.
Human Molecular Genetics|August 11, 1999
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation classV L Ruiz-Perez, S A Carter, E Healy, et al.
The Journal of Investigative Dermatology. Symposium Proceedings|October 28, 2005
Clinical and pathological features of pachyonychia congenitaSancy A Leachman, Roger L Kaspar, Philip Fleckman, et al.
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