Hailey- Hailey Disease.com
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Hailey- Hailey Disease.com
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Due to the large amount of scientific literature, links are given that will
direct you to PubMed where you can read the abstracts and either view or order
the full article. References are given from ~1990 to 2004.
J
Clin Invest. 2004 Nov;114(10):1467-74. Allelic
loss underlies type 2 segmental Hailey-Hailey disease, providing molecular
confirmation of a novel genetic concept. J
Invest Dermatol. 2004 Jul;123(1):67-71. Hailey-Hailey
disease: identification of novel mutations in ATP2C1 and effect of missense
mutation A528P on protein expression levels. J
Am Acad Dermatol. 2003 Oct;49(4):712-4. Type
1 segmental manifestation of Hailey-Hailey disease. Br
J Dermatol. 2003 Sep;149(3):471-4. Four
novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. [Disseminated
M. Hailey-Hailey] Br
J Dermatol. 2002 Apr;146(4):595-600. Mutation
analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. J
Invest Dermatol. 2002 Mar;118(3):550-1. Analysis
of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey
disease. J
Invest Dermatol. 2002 Feb;118(2):338-43. Hailey-Hailey
disease: molecular and clinical characterization of novel mutations in the
ATP2C1 gene. J
Invest Dermatol. 2001 Dec;117(6):1654-6. Mutations
of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and
interfamilial phenotype variations and lack of correlation with mutation
patterns. DNA
Cell Biol. 2001 Jan;20(1):41-52. Cloning
and characterization of human WDR10, a novel gene located at 3q21 encoding a
WD-repeat protein that is highly expressed in pituitary and testis. Genomics.
1995 Nov 1;30(1):77-80. Narrowing
of the Hailey-Hailey disease gene region on chromosome 3q and identification of
one kindred with a deletion in this region. J
Invest Dermatol. 1995 Sep;105(3):357-60. Hailey-Hailey
disease maps to a 5 cM interval on chromosome 3q21-q24. Hum
Mol Genet. 1994 Jul;3(7):1147-50. Localization
of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. J
Invest Dermatol. 1994 Jun;102(6):992-3. Hailey-Hailey
disease is not allelic to Darier's disease. |
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