Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease

British Journal of Dermatology

Volumn 149, Issue 3, 2003, Pages 471-474

  Li, H ^a   Sun, X K ^a   Zhu, X J ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

ATP2C1 gene; Hailey hailey disease; Mutation

Indexed keywords

ADULT; AGED; ARTICLE; ATP2C1 GENE; CHINESE; CLINICAL ARTICLE; DNA FLANKING REGION; DNA SPLICING; EXON; FAMILY HISTORY; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE SEQUENCE; HAILEY HAILEY DISEASE; HETEROZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; CALCIUM-TRANSPORTING ATPASES; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEMPHIGUS, BENIGN FAMILIAL; POLYMERASE CHAIN REACTION;

EID: 0142088949     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2003.05495.x     Document Type: Article

References (6)

1. Hu Z, Bonifas JM, Beech J et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 2000; 24: 61-5.
2. 2+ pump. Hum Mol Genet 2000; 9: 1131-40.
3. Ikeda S, Shigihara T, Mayuzumi N et al. Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. J Invest Dermatol 2001; 117: 1654-6.
4. Chao SC, Tsai YM, Yang MH. Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. Br J Dermatol 2002; 146: 595-600.
5. Dobson-Stone C, Fairclough R, Dunne E et al. Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol 2002; 118: 338-43.
6. Yokota K, Yasukawa K, Shimizu H. Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. J Invest Dermatol 2002; 118: 550-1.