Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease

Clinical and Experimental Dermatology

Volumn 30, Issue 5, 2005, Pages 575-577

  Rácz, Emoke ^a   Csikos M ^b   Karpati S ^b  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); CONTACT ALLERGEN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CONTACT ALLERGY; ENVIRONMENTAL EXPOSURE; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; HAILEY HAILEY DISEASE; HETEROZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; RECURRENT DISEASE;

AGED; BASE SEQUENCE; CALCIUM-TRANSPORTING ATPASES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEMPHIGUS, BENIGN FAMILIAL;

EID: 23044454569     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2005.01879.x     Document Type: Article

References (7)

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. Sudbrak R, Brown J, Dobson-Stone C et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump. Hum Mol Genet 2000; 9: 1131-40.
3. Burge SM. Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol 1992; 126: 275-82.
4. Ponyai G, Karpati S, Ablonczy E et al. Benign familial chronic pemphigus (Hailey-Hailey) provoked by contact sensitivity in 2 patients. Contact Dermatitis 1999; 40: 168-9.
5. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988; 16: 1215.
6. Ganguly A, Rock MJ, Prockop DJ. 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. Proc Natl Acad Sci USA 1993; 90: 10325-9.
7. Girolomoni G, Gisondi P, Ottaviani C et al. Immunoregulation of allergic contact dermatitis. J Dermatol 2004; 31: 264-70.