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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Appl Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2020
Soggetti:
Human Genetics • Original Paper
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi