Haplotype and mutation analysis in Greek patients with Wilson disease
نویسندگان
چکیده
منابع مشابه
The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
BACKGROUND Wilson disease is a rare autosomal recessive disorder of copper metabolism caused by mutation in the ATP7B gene. The combination of markers (such as SNPs) on a single chromosome can be used to understand the structure of haplotype in the human genome, in which provide notable information on the origin of the mutation in human genetic disorders. The purpose of this study was to determ...
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چکیده ندارد.
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. We found 50 different mutations of which 19 are novel, including three nonsens...
متن کاملClinical and genetic analysis of pediatric patients with Wilson disease.
BACKGROUND/AIMS Wilson disease (WD, MIM# 277900) is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase. Detecting mutations and single nucleotide polymorphisms (SNPs) of the ATP7B gene in Turkish pediatric WD patients (n=32) and controls (n=52) is the aim of this research. MATERIALS AND METHODS For screening mutatio...
متن کاملMutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
PURPOSE To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP. METHODS The entire region of RHO locus including a promoter region and introns was sequenced using blood-derived genomic DNA samples donated by 68 patients with RP and 68 control subjects. RESULT...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 1998
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200219