Kim Gu-hwan | Medical Genetics Center Asan Medical Center Children's Hospital University Of Ulsan College Of
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Medical Genetics Center Asan Medical Center Children's Hospital University Of Ulsan College Of | 論文
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
- 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
- Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome
- Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns