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Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease.
- Source :
- Clinical & Experimental Dermatology; Oct2011, Vol. 36 Issue 7, p814-816, 2p, 1 Color Photograph, 1 Graph
- Publication Year :
- 2011
-
Abstract
- The article discusses the medical condition of Chinese families with autosomal dominant disorder Hailey-Hailey disease (HHD) caused by mutations in adenosine triphosphatase (ATPase), Ca++ transporting, type 2C, member 1 (ATP2C1) gene. It discusses the linkage between HHD cases and condyloma acuminata (CA) in two Chinese families and its effect on the human secretory pathway Ca<superscript>2+</superscript>/ Mn<superscript>2</superscript> ± ATPase protein 1. It also presents three missense mutations in the ATP2C1 gene.
Details
- Language :
- English
- ISSN :
- 03076938
- Volume :
- 36
- Issue :
- 7
- Database :
- Complementary Index
- Journal :
- Clinical & Experimental Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 65552027
- Full Text :
- https://doi.org/10.1111/j.1365-2230.2011.04089.x