Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 18
Results: 12
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2077, doi. 10.1093/hmg/11.18.2077
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- Article
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2175, doi. 10.1093/hmg/11.18.2175
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- Article
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2129, doi. 10.1093/hmg/11.18.2129
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- Article
ζ-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2147, doi. 10.1093/hmg/11.18.2147
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- Article
Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2155, doi. 10.1093/hmg/11.18.2155
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- Article
Defects in homologous recombination repair in mismatch-repair-deficient tumour cell lines.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2189, doi. 10.1093/hmg/11.18.2189
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- Article
Identification of the autoantigen SART-1 as a candidate gene for the development of atopy.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2143, doi. 10.1093/hmg/11.18.2143
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- Article
Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2165, doi. 10.1093/hmg/11.18.2165
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- Article
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2113, doi. 10.1093/hmg/11.18.2113
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- Article
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2119, doi. 10.1093/hmg/11.18.2119
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- Article
A mouse model of spinal and bulbar muscular atrophy.
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- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2103, doi. 10.1093/hmg/11.18.2103
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- Article
Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2091, doi. 10.1093/hmg/11.18.2091
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- Article