Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease
Author:
Affiliation:
1. Hunter Genetics Service; Hunter New England LHD; Newcastle NSW Australia
2. University of Newcastle; NSW Australia
3. Department of Dermatology; Hunter New England LHD; Newcastle NSW Australia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference15 articles.
1. Multiple effects of SERCA2b mutations associated with darier's disease;Ahn;Journal of Biological Chemistry,2003
2. Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease;Bergman;American Journal of Dermatopathology,2012
3. A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation;Berk;The British Journal of Dermatology,2010
4. Corneal epithelial lesions in keratosis follicularis (Darier's disease);Blackman;Ophthalmology,1980
5. Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: Evidence that it is allelic to Darier's disease;Dhitavat;The Journal of Investigative Dermatology,2003
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