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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | PLoS One |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Public Library of Science
2015
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| Θέματα: | |
| Διαθέσιμο Online: | 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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