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Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease.

Authors :
Luo, S.
Ni, H.
Li, Y.
Hou, S.
Li, X.
Liu, Q.
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