Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 19
Results: 15
The Menkes copper transporter is required for the activation of tyrosinase.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2845, doi. 10.1093/hmg/9.19.2845
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- Article
Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2879, doi. 10.1093/hmg/9.19.2879
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- Article
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ [sup 1]-pyrroline-5-carboxylate synthase.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2853, doi. 10.1093/hmg/9.19.2853
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- Article
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2909, doi. 10.1093/hmg/9.19.2909
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- Article
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2789, doi. 10.1093/hmg/9.19.2789
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- Article
Dominant phenotypes produced by the HD mutation in STHdh [sup Q111] striatal cells.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2799, doi. 10.1093/hmg/9.19.2799
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- Article
Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2837, doi. 10.1093/hmg/9.19.2837
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- Article
The H19 methylation imprint is erased and re-established differentially on the parental alleles during male germ cell development.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2885, doi. 10.1093/hmg/9.19.2885
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- Publication type:
- Article
Human CENP-H multimers colocalize with CENP-A and CENP-C at active centromere-kinetochore complexes.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2919, doi. 10.1093/hmg/9.19.2919
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- Article
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2821, doi. 10.1093/hmg/9.19.2821
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- Article
Sequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2895, doi. 10.1093/hmg/9.19.2895
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- Article
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2869, doi. 10.1093/hmg/9.19.2869
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- Publication type:
- Article
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2781, doi. 10.1093/hmg/9.19.2781
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- Publication type:
- Article
Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2811, doi. 10.1093/hmg/9.19.2811
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- Publication type:
- Article
Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2859
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- Publication type:
- Article