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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Detalhes bibliográficos
Publicado no:J Appl Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2020
Assuntos:
Human Genetics • Original Paper
Acesso em linha: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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