Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 2
Results: 21
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 171, doi. 10.1093/hmg/7.2.171
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Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 209, doi. 10.1093/hmg/7.2.209
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Localization of a gene for otosclerosis to chromosome 15q25-q26.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 285, doi. 10.1093/hmg/7.2.285
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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 177
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The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 299, doi. 10.1093/hmg/7.2.299
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A candidate mammalian DNA methyltransferase related to pmt1p of fission yeast.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 279, doi. 10.1093/hmg/7.2.279
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Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 239, doi. 10.1093/hmg/7.2.239
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Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 265, doi. 10.1093/hmg/7.2.265
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Mutations of the α2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 249, doi. 10.1093/hmg/7.2.249
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A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 313, doi. 10.1093/hmg/7.2.313
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Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 195, doi. 10.1093/hmg/7.2.195
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Mutations in the canalicular multispecific organic anion transporter ( cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 203, doi. 10.1093/hmg/7.2.203
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DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 227
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Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 307, doi. 10.1093/hmg/7.2.307
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HLA-DR alleles display sex-dependent effects on survival and discriminate between individual and familial longevity.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 187, doi. 10.1093/hmg/7.2.187
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Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 257, doi. 10.1093/hmg/7.2.257
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- Article
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 273, doi. 10.1093/hmg/7.2.273
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Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 217, doi. 10.1093/hmg/7.2.217
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Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy ( SCA7 ).
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 165, doi. 10.1093/hmg/7.2.165
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Mutations in the palmitoyl-protein thioesterase gene ( PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 291, doi. 10.1093/hmg/7.2.291
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Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2ψ: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 157, doi. 10.1093/hmg/7.2.157
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- Article