A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an...

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Bibliografische gegevens
Gepubliceerd in:PLoS One
Hoofdauteurs: van Beek, Nina, Patsatsi, Aikaterini, Gupta, Yask, Möller, Steffen, Freitag, Miriam, Lemcke, Susanne, Recke, Andreas, Zillikens, Detlef, Schmidt, Enno, Ibrahim, Saleh
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2015
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383578/
https://ncbi.nlm.nih.gov/pubmed/25837627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0121253
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