Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

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Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

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Q28077015-7BBB7322-553F-4A03-A227-F6665E47D88F Q36690750-9A8A3689-886D-4B8F-A8D7-1A274E0740DA Q47899360-4DA365E1-2382-4872-B996-2E2D4F6DC5D7

P2860

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

@zh-hant

name

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

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Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

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type

Item

label

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

@en

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

@nl

prefLabel

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

@en

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

@nl

P1476

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys

@en

P2093

Amaia Domínguez

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Eduardo Ortiz-Lastra

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Gorka Barrenetxea

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Iratxe Huerta

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Isabel Arrieta

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Javier González

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Juan Manuel Ramírez

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Mercedes Télez

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Paula Gurtubay

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P2860

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

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

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.

An n-allele model for progressive amplification in the FMR1 locus

Examination of factors associated with instability of the FMR1 CGG repeat.

A nonsense mutation in FMR1 causing fragile X syndrome.

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110-120

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scholarly article

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10.1111/J.1469-1809.2011.00696.X

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P407

English

P433

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

P478

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P50

Maitane Barasoain

Maria Begoña Criado

P577

2012-01-02T00:00:00Z

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P5875

51974971

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P698

22211843

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P921

single-nucleotide polymorphism

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

about

P2860

P2860

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P921