Concepedia

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

DebbieM Hunt, Lisa Rickman, NeilV Whittock, RobinAJ Eady, Danijela Šimrak, P. Dopping-Hepenstal, HowardP Stevens, DKeithB Armstrong, Hans-Christian Hennies, Wolfgang Küster,

European Journal of Human Genetics · 2001 · 104 citations · 38 references

DOI

Concepts

References

38

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter et al. · Nature Genetics · 1999 · 734 citations

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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

Zhilan Hu, Jeannette M. Bonifas, J.A. Beech et al. · Nature Genetics · 2000 · 561 citations

, , +11

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

John A. McGrath, James R. McMillan, Carrie S. Shemanko et al. · Nature Genetics · 1997 · 374 citations

, , +14

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump

Ralf Sudbrak · Human Molecular Genetics · 2000 · 317 citations · Full text

, , +17

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma [published erratum appears in Hum Mol Genet 1999 May;8(5):943]

D. Keith B. Armstrong · Human Molecular Genetics · 1999 · 267 citations · Full text

, , +13