Misinterpretation of ATP2C1 gene mutations
نویسندگان
چکیده
منابع مشابه
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
Hailey-Hailey disease (HHD; MIM 16960) is a rare autosomal dominant hereditary disorder characterized by recurrent eruption of vesicles and bullae, predominantly involving the body folds. It is caused by heterozygous mutations in the ATP2C1 gene, encoding the human secretory pathway Ca2+/Mn2+-ATPase protein 1 (hSPCA1). When we studied Chinese patients with HHD, we found two different heterozygo...
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1.Cain, S.R. and S. Ganguly. 1995. Uses of fusion genes in mammalian transfection, p. 9.6.1-9.6.12. In F.D. Ausubel, R. Brent, R.E. Kingston, D.D. Moore, J.G. Seidman, J.A. Smith, and K. Struhl (Eds.), Current Protocols in Molecular Biology. John Wiley & Sons, New York. 2.Goridis, C. and J.F. Brunet. 1999. Transcriptional control of neurotransmitter phenotype. Curr. Opin. Neurobiol. 9:47-53. 3....
متن کاملAnalysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.
Hailey±Hailey disease (HHD) is an autosomal dominant chronic blistering disease, which is histologically characterized by keratinocyte acantholysis and epidermal cleft formation (Burge, 1992). The disease typically presents in middle age as crusted erosions or circinate plaques in sites exposed to friction such as the neck, axillae, groin, and perineum. Recently, the gene ATP2C1 has been identi...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2016
ISSN: 0378-6323
DOI: 10.4103/0378-6323.175922