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Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism

Hailey-Hailey disease is an autosomal genetic disease caused by mutations in one of the two ATP2C1 alleles encoding the secretory pathway Ca(2+)/Mn(2+)-ATPase, hSPCA1. The disease almost exclusively affects epidermis, where it mainly results in acantholysis of the suprabasal layers. The etiology of...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Muncanovic, Daniel, Justesen, Mette Heberg, Preisler, Sarah Spruce, Pedersen, Per Amstrup
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6712213/
https://ncbi.nlm.nih.gov/pubmed/31455819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-48866-y
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