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Darier Disease – A Multi-organ Condition?

Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca(2+)-ATPase isoform 2 in the endoplasmic reticulum. Since sarcoendoplasmic reticulum Ca(2+)-ATPase isoform 2 is expressed in most tissues, and int...

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Detalles Bibliográficos
Autores principales: BACHAR-WIKSTRÖM, Etty, WIKSTRÖM, Jakob D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Publication of Acta Dermato-Venereologica 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364244/
https://www.ncbi.nlm.nih.gov/pubmed/33606037
http://dx.doi.org/10.2340/00015555-3770