Novel mutations in Darier disease and association to self-reported disease severity

Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin. Darier disease affects up to 1 in 30 000 people and is caused by mutations in the ATP2A2 gene, which encodes to the sarco/endoplasmic reticulum calcium-A...

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Detalles Bibliográficos
Autores principales: Leong, Ivone U. S., Stuckey, Alexander, Ahanian, Tara, Cederlöf, Martin, Wikstrom, Jakob D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640244/
https://www.ncbi.nlm.nih.gov/pubmed/29028823
http://dx.doi.org/10.1371/journal.pone.0186356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640244/
https://www.ncbi.nlm.nih.gov/pubmed/29028823
http://dx.doi.org/10.1371/journal.pone.0186356

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