Works matching IS 14345161 AND DT 2004 AND VI 49 AND IP 8
Results: 9
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 399, doi. 10.1007/s10038-004-0165-0
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Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 414, doi. 10.1007/s10038-004-0170-3
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Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 404, doi. 10.1007/s10038-004-0168-x
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Effect of liver fatty acid binding protein (FABP) T94A missense mutation on plasma lipoprotein responsiveness to treatment with fenofibrate.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 424, doi. 10.1007/s10038-004-0171-2
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A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 440, doi. 10.1007/s10038-004-0166-z
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An association analysis between ApoA1 polymorphisms and the high-density lipoprotein (HDL) cholesterol level and myocardial infarction (MI) in Japanese.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 433, doi. 10.1007/s10038-004-0172-1
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Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 445, doi. 10.1007/s10038-004-0167-y
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Identification of variants in cyclin D1 (CCND1) and B-Cell CLL/lymphoma 2 (BCL2).
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 449, doi. 10.1007/s10038-004-0173-0
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Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 408, doi. 10.1007/s10038-004-0169-9
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- Article