Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 16
Results: 11
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1845
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- Article
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1797, doi. 10.1093/hmg/11.16.1797
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- Article
A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1865, doi. 10.1093/hmg/11.16.1865
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- Article
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.
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- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1887, doi. 10.1093/hmg/11.16.1887
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- Article
Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1835, doi. 10.1093/hmg/11.16.1835
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- Article
Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1899, doi. 10.1093/hmg/11.16.1899
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- Article
Experimental analysis of the annotation of promoters in the public database.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1817, doi. 10.1093/hmg/11.16.1817
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- Article
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1879, doi. 10.1093/hmg/11.16.1879
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- Article
Bleomycin hydrolase and a genetic locus within the MHC affect risk for pulmonary fibrosis in mice.
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- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1855, doi. 10.1093/hmg/11.16.1855
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- Article
Spectrin-like repeats from dystrophin and α-actinin-2 are not functionally interchangeable.
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- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1807, doi. 10.1093/hmg/11.16.1807
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- Article
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1823, doi. 10.1093/hmg/11.16.1823
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- Publication type:
- Article