Works matching IS 14345161 AND DT 1998 AND VI 43 AND IP 4
Results: 20
Anticipation in Japanese families with schizophrenia.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 217, doi. 10.1007/s100380050076
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New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 224, doi. 10.1007/s100380050077
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Infrequent genetic alterations of the PTEN gene in Japanese patients with sporadic prostate cancer.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 228, doi. 10.1007/s100380050078
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Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 231, doi. 10.1007/s100380050079
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Molecular diagnosis of patients with β-thalassemia major in central Taiwan by amplified created restriction site analysis.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 237, doi. 10.1007/s100380050080
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Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 242, doi. 10.1007/s100380050081
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Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 246, doi. 10.1007/s100380050082
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Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 250, doi. 10.1007/s100380050083
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Isolation and mapping of a novel human kidney- and liver-specific gene homologous to the bacterial acetyltransferases.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 255, doi. 10.1007/s100380050084
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Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 259, doi. 10.1007/s100380050085
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Cloning and characterization of the murine P2XM receptor gene.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 262, doi. 10.1007/s100380050086
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Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1).
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 268, doi. 10.1007/s100380050087
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Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 272, doi. 10.1007/s100380050088
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Chromosomal assignment of the gene for human DNA-PKcs interacting protein (KIP) on chromosome 15q25.3-q26.1 by somatic hybrid analysis and fluorescence in situ hybridization.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 275, doi. 10.1007/s100380050089
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A highly polymorphic CA repeat marker at the human tumor necrosis factor alpha (TNFAα) locus.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 278, doi. 10.1007/s100380050090
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Isolation and radiation hybrid mapping of a dinucleotide repeat polymorphism at the human calcium-sensing receptor (CASR) locus.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 280, doi. 10.1007/s100380050091
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A HhaI/BstUI polymorphism in a novel gene at human chromosome 11p15.5.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 283, doi. 10.1007/s100380050092
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A GT dinucleotide repeat polymorphism in intron 1 of the H-cadherin (CDH13) gene.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 285, doi. 10.1007/s100380050093
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Isolation of a polymorphic CA repeat sequence at the human progesterone receptor (PGR) locus.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 287, doi. 10.1007/s100380050094
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A highly polymorphic CA repeat marker at the human interleukin 6 receptor (IL6R) locus.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 289, doi. 10.1007/s100380050095
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