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Article

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

Human molecular genetics - 1 Jun 1996

Mornet E, Chateau C, Hirst M C, Thepot F, Taillandier A, Cibois O, Serre J L

Abstract excerpt

In order to characterize the dynamics of CGG repeat instability at the fragile X syndrome locus (FMR1 gene), we have used small pool PCR to estimate the mutation rate within germline (sperm) and somatic tissue (leukocytes) of two normal males, one carrying the most common 29 CGG repeats allele, t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8776598
DOI: 10.1093/hmg/5.6.821

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8776598-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range.PMID 8776598Read ↗

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.Semantic proximity Read ↗

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

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

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Semantic proximity Read ↗

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

Familial transmission of the FMR1 CGG repeat.Semantic proximity Read ↗

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Semantic proximity Read ↗

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

Analysis of CGG variation through 642 meioses in Fragile X families.Semantic proximity Read ↗

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.Semantic proximity Read ↗

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.Semantic proximity Read ↗

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