Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease

British Journal of Dermatology

Volumn 146, Issue 4, 2002, Pages 595-600

  Chao, Sheau Chiou ^a   Tsai, Y M ^a   Yang, M H ^a  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

ATP2C1 gene; Familial benign chronic pemphigus; Hailey Hailey disease; Mutation analysis

Indexed keywords

ARTICLE; ATP2C1 GENE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DELETION MUTANT; DNA FLANKING REGION; EXON; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAILEY HAILEY DISEASE; HISTOPATHOLOGY; HUMAN; INTRON; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TAIWAN;

BASE SEQUENCE; CALCIUM-TRANSPORTING ATPASES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PEMPHIGUS, BENIGN FAMILIAL; POLYMERASE CHAIN REACTION;

EID: 0036235818     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2002.04697.x     Document Type: Article

References (13)

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2. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
3. 2+ pump
4. Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q
5. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24
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7. 2+-dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary sequence
8. 2+-ATPases
9. 2+-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution
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12. Mutations in ATP2A2, encoding a Ca(2+) pump, cause Darier disease
13. ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with mis-sense mutations, but neuropsychiatric features are independent of mutation class