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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4126815

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

About this item

Full title

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Publisher

England: BioMed Central Ltd

Journal title

Journal of neurodevelopmental disorders, 2014-07, Vol.6 (1), p.24-24, Article 24

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission...

Alternative Titles

Full title

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4126815

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4126815

Other Identifiers

ISSN

1866-1947,1866-1955

E-ISSN

1866-1955

DOI

10.1186/1866-1955-6-24

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