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Article

The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.

Journal of medical genetics - 1 Aug 1997

Kunst C B, Leeflang E P, Iber J C, Arnheim N, Warren S T

Abstract excerpt

Fragile X syndrome results from the unstable expansion of a CGG repeat within the FMR1 gene. Three classes of FMR1 alleles have been identified, normal alleles with 6-60 repeats, premutations with 60-200 repeats, and full mutations with > 230 repeats. Premutations are exquisitely unstable upon transmission. Normal alleles, while generally stable upon transmission, are thought to have different intrinsic mutation...

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Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9279752
DOI: 10.1136/jmg.34.8.627
PMCID: PMC1051022

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.PMID 9279752Read ↗

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FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.Semantic proximity Read ↗

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.Semantic proximity Read ↗

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range.Semantic proximity Read ↗

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