Browsing by AJOU Author : 한시훈

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Showing results 1 to 16 of 16

Publication YearTitleAJOU
Author
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.박홍준한시훈전영명박기현
1998Extensive form of aplasia cutis congenita: a new syndrome?박문성한시훈홍창호김행수
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.조성원한시훈
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.한시훈정조원홍창호
1999구리대사 이상질환의 분자유전특성연구한시훈
1999월슨씨병 질환자의 분자유전 특성연구한시훈
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