Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 24
Results: 12
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3097, doi. 10.1093/hmg/11.24.3097
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- Article
Mutations in congenital myasthenic syndromes reveal an ɛ subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3087, doi. 10.1093/hmg/11.24.3087
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- Article
Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3107, doi. 10.1093/hmg/11.24.3107
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- Article
Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 2997, doi. 10.1093/hmg/11.24.2997
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- Article
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3065, doi. 10.1093/hmg/11.24.3065
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- Article
Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3075, doi. 10.1093/hmg/11.24.3075
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- Article
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3055, doi. 10.1093/hmg/11.24.3055
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- Article
Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3039, doi. 10.1093/hmg/11.24.3039
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- Article
Molecular mechanisms of autosomal recessive hypercholesterolemia.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3019, doi. 10.1093/hmg/11.24.3019
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- Article
A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3047, doi. 10.1093/hmg/11.24.3047
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- Article
Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression.
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- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3007, doi. 10.1093/hmg/11.24.3007
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- Publication type:
- Article
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3031, doi. 10.1093/hmg/11.24.3031
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- Article