Works matching IS 14345161 AND DT 1999 AND VI 44 AND IP 2
Results: 17
A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 135, doi. 10.1007/s100380050128
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Isolation and mapping of a polymorphic CA repeat sequence at the human VRK1 locus.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 133, doi. 10.1007/s100380050127
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The human regulator of G-protein signaling protein 6 gene (RGS6) maps between markers WI-5202 and D14S277 on chromosome 14q24.3.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 138, doi. 10.1007/s100380050129
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A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 79, doi. 10.1007/s100380050114
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Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 85, doi. 10.1007/s100380050115
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Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 91, doi. 10.1007/s100380050116
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Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 96, doi. 10.1007/s100380050117
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Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 103, doi. 10.1007/s100380050118
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Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 109, doi. 10.1007/s100380050119
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Isolation and characterization of a novel serine threonine kinase gene on chromosome 3p22-21.3.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 116, doi. 10.1007/s100380050121
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Isolation and chromosomal assignment of human genes encoding cofactor of LIM homeodomain proteins, CLIM1 and CLIM2.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 112, doi. 10.1007/s100380050120
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A novel human gene whose product shares significant homology with the bovine brain-specific protein p25 on chromosome 5p15.3.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 121, doi. 10.1007/s100380050122
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A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 123, doi. 10.1007/s100380050123
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Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the human nuclear factor kappa-beta subunit 1 (NFKB1) locus.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 129, doi. 10.1007/s100380050125
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Familial isolated noncompaction of ventricular myocardium.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 126, doi. 10.1007/s100380050124
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A Gln/Arg polymorphism at codon 349 of the hBUBR1 gene.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 131, doi. 10.1007/s100380050126
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Chromosomal assignment of a human apoptosis-associated tyrosine kinase gene on chromosome 17q25.3 by somatic hybrid analysis and fluorescence in situ hybridization.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 141, doi. 10.1007/s100380050130
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