Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns.

Abstract excerpt

We report herein mutations of ATP2C1 in 11 Japanese patients with Hailey-Hailey disease gene (including five previously reported) and compare the mutation pattern with clinical phenotypes. Patients with missense mutations and some of those with mutations causing premature termination showed erythema and erosions primarily at intertriginous areas. In two families with unique mutations, one with an in-frame three...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Calcium-Transporting ATPases