Browsing "Pediatrics & Adolescent Medicine" by Keyword : Base Sequence

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Showing results 1 to 7 of 7

Pub YearTitleAJOU Author(s)
1999Cloning and characterization of the promoter region of the Wilson disease gene.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
2010KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.고정민, 황진순
1994Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.한시훈
2016Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma이해상, 황진순
2010Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.김성환, 황진순
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