Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 15
Results: 17
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2251, doi. 10.1093/oxfordjournals.hmg.a018916
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Genetic dissection of a rat model for rheumatoid arthritis: significant gender influences on autosomal modifier loci.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2241, doi. 10.1093/oxfordjournals.hmg.a018915
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Identification of WTAP, a novel Wilms' tumour 1-associating protein.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2231, doi. 10.1093/oxfordjournals.hmg.a018914
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Interaction between LIS1 and doublecortin, two lissencephaly gene products.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2205, doi. 10.1093/oxfordjournals.hmg.a018911
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Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2215, doi. 10.1093/oxfordjournals.hmg.a018912
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RNA hyperediting and alternative splicing of hematopoietic cell phosphatase ( PTPN6) gene in acute myeloid leukemia.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2297, doi. 10.1093/oxfordjournals.hmg.a018921
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Deletion of azoospermia factor a (AZFa ) region of human Y chromosome caused by recombination between HERV15 proviruses.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2291, doi. 10.1093/oxfordjournals.hmg.a018920
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Two imprinted gene mutations: three phenotypes.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2263, doi. 10.1093/oxfordjournals.hmg.a018917
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The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2275, doi. 10.1093/oxfordjournals.hmg.a018918
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Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2223, doi. 10.1093/oxfordjournals.hmg.a018913
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Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2321, doi. 10.1093/oxfordjournals.hmg.a018924
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Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2335, doi. 10.1093/oxfordjournals.hmg.a018926
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Structural and functional analysis of mutations in alkaptonuria.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2341, doi. 10.1093/oxfordjournals.hmg.a018927
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- Article
Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2313, doi. 10.1093/oxfordjournals.hmg.a018923
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- Article
Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2281, doi. 10.1093/oxfordjournals.hmg.a018919
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Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2305, doi. 10.1093/oxfordjournals.hmg.a018922
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- Article
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2329, doi. 10.1093/oxfordjournals.hmg.a018925
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- Article