Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease

Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutations. About 180 distinct mutations have been identi...

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Bibliografiska uppgifter
I publikationen:J Appl Genet
Huvudupphovsmän: Sawicka, J., Kutkowska-Kaźmierczak, A., Woźniak, K., Tysarowski, A., Osipowicz, K., Poznański, J., Rygiel, A. M., Braun-Walicka, N., Niepokój, K., Bal, J., Kowalewski, C., Wertheim-Tysarowska, K.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2020
Ämnen:
Human Genetics • Original Paper
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7148260/
https://ncbi.nlm.nih.gov/pubmed/31983024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-020-00538-8
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