Browsing by Keyword : Heterozygote

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Showing results 1 to 16 of 16

Pub YearTitleAJOU Author(s)
2016Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma김승현, 신유섭, 예영민
2010Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.김옥화
2012Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients김구상
2011Deletion of SNAP-23 results in pre-implantation embryonic lethality in mice서영호
2013Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.정윤석, 진현석
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2014Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.이기영, 임신영, 정선용
2005Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population.김진홍, 정재연, 조성원, 함기백
2005Mutation analysis of the MCM gene in Korean patients with MMA.김성환, 박준은, 정조원, 황진순
2012Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease이용희
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2012The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia박준은
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
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