Browsing by AJOU Author : 한시훈

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Showing results 1 to 16 of 16

Pub YearTitleAuthor(s)
1997A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.한시훈
2000A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.한시훈
1999Cloning and characterization of the promoter region of the Wilson disease gene.한시훈
2000Connexin26 mutations associated with nonsyndromic hearing loss.박기현, 박홍준, 전영명, 한시훈
1998Extensive form of aplasia cutis congenita: a new syndrome?김행수, 박문성, 한시훈, 홍창호
2000Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.한시훈
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
1998Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.조성원, 한시훈
1994Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.한시훈
1995Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.한시훈
2000Mutation analysis of Korean patients with citrullinemia.한시훈
2000Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.한시훈
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
1999Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.정조원, 한시훈, 홍창호
1999구리대사 이상질환의 분자유전특성연구한시훈
1999월슨씨병 질환자의 분자유전 특성연구한시훈
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