Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. - Wikidata - thesis-toulmin - TriplyDB

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.

http://www.wikidata.org/entity/Q34345703

about

Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization Afamin is synthesized by cerebrovascular endothelial cells and mediates alpha-tocopherol transport across an in vitro model of the blood-brain barrier Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1 A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct Vitamin E, antioxidant and nothing more Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping Analysis of genetic linkage data for Mendelian traits.Diagnosis of inherited metabolic disorders affecting the nervous system Vitamin E: a dark horse at the crossroad of cancer management.Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration Changes in the metabolic profile of rat liver after α-tocopherol deficiency as revealed by metabolomics analysis.Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24 Localization of the giant axonal neuropathy gene to chromosome 16q24.Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.The 80th anniversary of vitamin E: beyond its antioxidant properties.Epilepsy in a patient with ataxia caused by vitamin E deficiency.Diagnosing Friedreich's ataxia.Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.Human plasma vitamin E kinetics demonstrate rapid recycling of plasma RRR-alpha-tocopherol.A locus for Fanconi anemia on 16q determined by homozygosity mapping.Recent advances in hereditary spinocerebellar ataxias.The inherited ataxias and the new genetics.Mechanisms for the prevention of vitamin E excess Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.α-Tocopheryl phosphate--an activated form of vitamin E important for angiogenesis and vasculogenesis?A history of vitamin E.Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families.A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia.The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.

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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.

http://www.wikidata.org/entity/Q34345703

description

1993 nî lūn-bûn

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1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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1993 թվականի հոտեմբերին հրատարակված գիտական հոդված

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1993年の論文

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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Localization of Friedreich ata ...... me 8q by homozygosity mapping.

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vitamin deficiency

vitamin D deficiency