Mutations of ATP2C1 in japanese patients with Hailey-Hailey disease: Intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns

Journal of Investigative Dermatology

Volumn 117, Issue 6, 2001, Pages 1654-1656

  Ikeda, S ^a   Shigihara, T ^a   Mayuzumi, N ^a   Yu, X ^a   Ogawa, H ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ATP2C1; Hailey Hailey disease; Mutations; Phenotype

Indexed keywords

ADENOSINE TRIPHOSPHATE DERIVATIVE;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DARIER DISEASE; ERYTHEMA; FEMALE; GENE DELETION; GENE INSERTION; HAILEY HAILEY DISEASE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; PAPULE; PHENOTYPE; PRIORITY JOURNAL; RASH;

EID: 0035679791     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01596.x     Document Type: Article

References (9)

1. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12
2. Hailey-Hailey disease: The clinical features, response to treatment and prognosis
3. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa
4. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
5. Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q
6. Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region
7. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24
8. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump