Molecular genetic and proteomic analysis in Korean patients with Wilson disease
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概要
- 論文の詳細を見る
- 2007-10-23
著者
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Yoo Han-wook
Medical Genetics Clinic And Laboratory
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Yoo Han-wook
Medical Genetics Clinic & Laboratory Department Of Pediatrics Asan Medical Center University Of
関連論文
- Mutation spectrum and polymorphisms in the human ATP7B gene and diverse phenotype of Korean patients with Wilson Disease
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
- Genotypes and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria
- Molecular genetic and proteomic analysis in Korean patients with Wilson disease
- Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis
- Enzyme replacement therapy for Fabry disease in Korea
- Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations
- Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
- Low prevalence of classical galactosemia in Korean population