Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability
Author:
Publisher
Wiley
Subject
Dermatology
Reference16 articles.
1. The phenotype of Darier's disease: penetrance and expressivity in adults and children
2. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
3. Ca2+ extrusion across plasma membrane and Ca2+ uptake by intracellular stores
4. Molecular cloning of cDNAs from human kidney coding for two alternatively spliced products of the cardiac Ca2+-ATPase gene.
5. ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class
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2. Anti‐desmoglein 1 antibody‐positive mother and antibody‐negative child with Darier's disease;The Journal of Dermatology;2022-09-08
3. A Case of Darier’s Disease with a Novel Missense Mutation in ATP2A2 Successfully Treated with Calcipotriol/Betamethasone Dipropionate Two-Compound Ointment;Clinical, Cosmetic and Investigational Dermatology;2022-03
4. Novel ATP2A2 mutation in a large Chinese pedigree with extensive Darier's disease;Indian Journal of Dermatology, Venereology and Leprology;2020
5. Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management;Periodontology 2000;2019-05-15
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