The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission. - Wikidata - wikimedia - TriplyDB

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.

http://www.wikidata.org/entity/Q47314769

about

Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene FMR1 and the fragile X syndrome: human genome epidemiology review FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.Inhibition of DNA synthesis facilitates expansion of low-complexity repeats: is strand slippage stimulated by transient local depletion of specific dNTPs?Analysis of the Fragile X Trinucleotide Repeat in Basques: Association of Premutation and Intermediate Sizes, Anchoring AGGs and Linked Microsatellites with Unstable Alleles.Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.Prevalence of the fragile X syndrome in African-Americans.Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles.Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain.Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles.Clinical involvement and protein expression in individuals with the FMR1 premutation.

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P2860

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.

http://www.wikidata.org/entity/Q47314769

description

1997 nî lūn-bûn

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1997年の論文

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1997年学术文章

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1997年學術文章

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The role of size, sequence and ...... E alleles during transmission.

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The role of size, sequence and ...... E alleles during transmission.

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The role of size, sequence and ...... E alleles during transmission.

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The role of size, sequence and ...... E alleles during transmission.

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The role of size, sequence and ...... E alleles during transmission.

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The role of size, sequence and ...... E alleles during transmission.

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Human Molecular Genetics

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The role of size, sequence and ...... E alleles during transmission.

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Dennis NR

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Jacobs PA

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Linehan P

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Macpherson JN

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McKechnie N

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Murray A

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Pound MC

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Sharrock A

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Youings SA

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P2860

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

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

A second-generation linkage map of the human genome.

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

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Fine structure of the human FMR1 gene.

Identification of the gene FMR2, associated with FRAXE mental retardation.

Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.

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173-184

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10.1093/HMG/6.2.173

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2

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6

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Newton Ennis Morton

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14147812

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9063737

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