Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE
نویسندگان
چکیده
منابع مشابه
Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, mental retardation, skin lesions, and tumors in various organs. However, TSC is sometimes difficult to diagnose because of its broad phenotypic spectrum. In such cases, it is essential to find a mutation in the disease-causing genes, TSC1 and TSC2. In this study, we analyzed 21 TSC patients from 16 fam...
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a comparative study of the theme of "marriage" in three victorian novelists: charles dickens, george eliot and thomas hardy
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A Chinese tuberous sclerosis complex family and a novel tuberous sclerosis complex-2 mutation.
Tuberous sclerosis complex (TSC) is a relatively common autosomal dominant genetic disorder affecting 1/14,000–1/6000 Western populations. The incidence of TSC in Chinese population is still unknown although case reports of Chinese TSC patients were documented. The main clinical features of TSC include seizures, mental retardation, and the development of hamartomas in multiple organs such as th...
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Pemphigus vulgaris is a blistering autoimmune disease with suprabasal cleft formation, which is the most common autoimmune blistering disease in eastern countries, such as Middle East. Predisposition to pemphigus is linked to genetic factors. Tuberous sclerosis is also a genetic disorder of hamartoma formation in many organs, particularly the skin, brain, eye, kidney and heart. We report ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2000
ISSN: 1059-7794,1098-1004
DOI: 10.1002/1098-1004(200007)16:1<88::aid-humu15>3.0.co;2-j