Works matching IS 14345161 AND DT 2000 AND VI 45 AND IP 2
Results: 14
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 69, doi. 10.1007/s100380050014
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Y chromosomal DNA variation in East Asian populations and its potential for inferring the peopling of Korea.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 76, doi. 10.1007/s100380050015
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A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 84, doi. 10.1007/s100380050016
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Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 86, doi. 10.1007/s100380050017
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Human aryl hydrocarbon receptor nuclear translocator gene (ARNT) D/N511 polymorphism.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 92, doi. 10.1007/s100380050018
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Human cathepsin S gene (CTSS) promoter -25G/A polymorphism.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 94, doi. 10.1007/s100380050019
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An NsiI RFLP in the human long QT intronic transcript 1 (LIT1).
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 96, doi. 10.1007/s100380050020
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Human hepatocyte nuclear factor-1β (HNF1B) 1968A/G polymorphism.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 98, doi. 10.1007/s100380050021
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Human C-reactive protein (CRP) 1059G/C polymorphism.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 100, doi. 10.1007/s100380050022
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A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 102, doi. 10.1007/s100380050023
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A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 105, doi. 10.1007/s100380050024
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Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 109, doi. 10.1007/s100380050025
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A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 112, doi. 10.1007/s100380050026
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Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
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- Journal of Human Genetics, 2000, v. 45, n. 2, p. 115, doi. 10.1007/s100380050027
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