A complex mutable polymorphism located within the fragile X gene. (Q52221941)

27 April 2018

title

A complex mutable polymorphism located within the fragile X gene. (English)

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27 April 2018

author name string

Zhong N

series ordinal

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27 April 2018

Dobkin C

series ordinal

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27 April 2018

Brown WT

series ordinal

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27 April 2018

language of work or name

English

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publication date

1 November 1993

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27 April 2018

published in

Nature Genetics

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27 April 2018

volume

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27 April 2018

issue

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27 April 2018

page(s)

248-253

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27 April 2018

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

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A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development

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

21 January 2018

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7 January 2021

Absence of expression of the FMR-1 gene in fragile X syndrome

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Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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Evidence of founder chromosomes in fragile X syndrome

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Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

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The fragile X syndrome: no evidence for any recent mutations

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Slippage synthesis of simple sequence DNA

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A fundamental division in the Alu family of repeated sequences

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7 January 2021

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

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Survey of human and rat microsatellites.

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Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

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Length and sequence variation in the apolipoprotein B intron 20 Alu repeat.

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CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

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Identifiers

DOI

10.1038/NG1193-248

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27 April 2018

1 reference

27 April 2018