Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey–Hailey disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00403-011-1185-1.pdf
Reference18 articles.
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2. Chao SC, Tsai YM, Yang MH (2002) Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey–Hailey disease. Br J Dermatol 146:595–600
3. Cheng Y, Cheng YM, Zhao G et al (2011) A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey–Hailey disease. Biochem Biophys Res Commun 406:420–422
4. Daiho T, Yamasaki K, Suzuki H et al (1999) Deletions or specific substitutions of a few residues in the NH2-terminal region of sarcoplasmic reticulum Ca2+-ATPase cause inactivation and rapid degradation of the enzyme expressed in COS-1 cells. J Biol Chem 274:23910–23915
5. Fairclough RJ, Dode L, Vanoevelen J et al (2003) Effect of Hailey–Hailey disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+—ATPase (hSPCA1). J Biol Chem 278:24721–24730
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1. Altered levels of focal adhesion and extracellular matrix‐receptor interacting proteins were identified in Hailey‐Hailey disease by quantitative iTRAQ proteome analysis;Journal of Cellular Biochemistry;2018-12-03
2. Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population;Medical Science Monitor Basic Research;2017-11-06
3. The role of the ATP2C1 gene in Hailey–Hailey disease;Cellular and Molecular Life Sciences;2017-05-27
4. Four novelATP2C1mutations in Chinese patients with Hailey-Hailey disease;The Journal of Dermatology;2016-10
5. ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking;Cell Death & Disease;2016-06
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