Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease [3]

Journal of Investigative Dermatology

Volumn 118, Issue 3, 2002, Pages 550-551

  Yokota, Koichi ^a   Takizawa, Yasuko ^a   Yasukawa, Kana ^a   Kimura, Kumiko ^a   Nishikawa, Takeji ^a   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ACANTHOLYSIS; ADULT; AGAR GEL ELECTROPHORESIS; AGED; ATP2C1 GENE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; ELECTROPHORETIC MOBILITY; FAMILY HISTORY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HAILEY HAILEY DISEASE; HISTOLOGY; HUMAN; JAPAN; KERATINOCYTE; LETTER; LEUKOCYTE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0036125299     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01686.x     Document Type: Letter

References (6)

1. Hailey-Hailey disease: The clinical features, response to treatment and prognosis
2. Nonsense-mediated mRNA decay in health and disease
3. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
4. A perfect message: RNA surveillance and nonsense-mediated decay
5. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
6. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca (2+) pump