Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference7 articles.
1. Textbook of Dermatology;Champion,1998
2. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease;Sakuntabhai;Nat. Genet.,1999
3. Spectrum of novel ATP2A2 mutations in patients with Darier's disease;Sakuntabhai;Hum. Mol. Genet.,1999
4. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class;Ruiz-Perez;Hum. Mol. Genet.,1999
5. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes;Jacobsen;Hum. Mol. Genet.,1999
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2. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease;Human Mutation;2017-02-15
3. An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations;Journal of Nippon Medical School;2017
4. Redox-assisted regulation of Ca2+ homeostasis in the endoplasmic reticulum by disulfide reductase ERdj5;Proceedings of the National Academy of Sciences;2016-09-30
5. Successful treatment of combination therapy with tacalcitol lotion associated with sunscreen for localized Darier’s disease;The Journal of Dermatology;2010-07-22
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