Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 2
Results: 32
Sequence polymorphisms in the apo(a) gene associated with specific levels of Lp(a) in plasma.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 173
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Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 157
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REVIEW: The end of an era.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 149
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Engraftment of immune-deficient mice with primitive hematopoietic cells from β-thalassemia and sickle cell anemia patients: implications for evaluating human gene therapy protocols.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 163
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COMMENTARY: So many needles, so much hay.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 153
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Instructions to Authors.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 323
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- Article
Author index.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 321
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- Article
Two novel mutations involved in hereditary tyrosinemia type I.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 319
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Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1α subunit.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 315
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- Article
An amino-terminally truncated p53 protein expressed in a human choriocarcinoma cell line, CC1.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 313
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- Article
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 309
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- Article
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 307
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CAG repeat length variation in sperm from a patient with Kennedy's disease.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 303
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Five novel genes from the cri-du-chat critical region isolated by direct selection.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 295
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Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISH.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 289
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- Article
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly→Arg) in the type II collagen trimer.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 285
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Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 279
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A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 275
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Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 269
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Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic Stiff—Man syndrome, and mapping of its gene (AMPH) to chromosome 7p13–p14.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 265
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The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 257
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The DXS423E gene in Xp11.21 escapes X chromosome inactivation.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 251
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The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 243
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Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 237
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Slow N-acetylation genotype is a susceptibility factor in occupational and smoking related bladder cancer.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 231
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Structure and function of ASP, the human homolog of the mouse agouti gene.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 223
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Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 215
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Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 207
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Haplotype analysis of the Δ2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent ‘founder’ HD haplotype.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 203
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Analysis of the CD3 gene region and type 1 diabetes: application of fluorescence-based technology to linkage disequilibrium mapping.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 197
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Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 189
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Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 183
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