Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels-Reference-Cited by-同舟云学术

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Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels

Published:2004-07 Issue:1 Volume:123 Page:67-71
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Fairclough Rebecca J.,Lonie Lorne,Van Baelen Kurt,Haftek Marek,Munro Colin S.,Burge Susan M.,Hovnanian Alain

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference21 articles.

1. The yeast Ca2+-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution;Antebi;Mol Biol Cell,1992

2. Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families;Bitoun;J Invest Dermatol,2002

3. Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey–Hailey disease;Chao;Br J Dermatol,2002

4. Deletions or specific substitutions of a few residues in the NH2-terminal region (Ala3 to Thr9) of sarcoplasmic reticulum Ca2+-ATPase cause inactivation and rapid degradation of the enzyme expressed in COS-1 cells;Daiho;J Biol Chem,1999

5. Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses;Dobson-Stone;Eur J Hum Genet,2000

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4. Darier and Hailey‐Hailey disease: update 2021;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2021-10

5. Morbus Darier und Morbus Hailey‐Hailey: Stand 2021;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2021-10

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