Dynamics of CAG repeat loci revealed by the analysis of their variability. - Wikidata - awgldk - TriplyDB

Dynamics of CAG repeat loci revealed by the analysis of their variability.

Dynamics of CAG repeat loci revealed by the analysis of their variability.

http://www.wikidata.org/entity/Q46863018

about

Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.CAG-encoded polyglutamine length polymorphism in the human genome Database of exact tandem repeats in the Zebrafish genome.Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes.Mutation patterns of amino acid tandem repeats in the human proteome Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.The 2.2-Angstrom resolution crystal structure of the carboxy-terminal region of ataxin-3.Genetic and molecular aspects of spinocerebellar ataxias.Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

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P2860

Dynamics of CAG repeat loci revealed by the analysis of their variability.

http://www.wikidata.org/entity/Q46863018

description

2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年學術文章

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2003年學術文章

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name

Dynamics of CAG repeat loci revealed by the analysis of their variability.

@en

Dynamics of CAG repeat loci revealed by the analysis of their variability.

@nl

type

label

Dynamics of CAG repeat loci revealed by the analysis of their variability.

@en

Dynamics of CAG repeat loci revealed by the analysis of their variability.

@nl

prefLabel

Dynamics of CAG repeat loci revealed by the analysis of their variability.

@en

Dynamics of CAG repeat loci revealed by the analysis of their variability.

@nl

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Dynamics of CAG repeat loci revealed by the analysis of their variability.

@en

P2093

Marta Soldevila

http://www.w3.org/2001/XMLSchema#string

P2860

The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

An apportionment of human DNA diversity

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.

Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

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61-70

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scholarly article

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10.1002/HUMU.10151

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1

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21

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Jaume Bertranpetit

Francesc Calafell

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2003-01-01T00:00:00Z

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12497632

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