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Article

Molecular heterogeneity of the fragile X syndrome.

Nucleic acids research - 25 Aug 1991

Nakahori Y, Knight S J, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, Flint T J, Froster-Iskenius U, Bentley D

Abstract excerpt

The fragile X syndrome is an X-linked disorder which has been shown to be associated with the length variation of a DNA fragment containing a CGG trinucleotide repeat element at or close to the fragile site. Phenotypically normal carriers of the disorder generally have a smaller length variation than affected individuals. We have cloned the region in cosmids and defined the area containing the amplified sequence....

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Identifiers

PMID: 1886762
DOI: 10.1093/nar/19.16.4355
PMCID: PMC328620

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular heterogeneity of the fragile X syndrome.PMID 1886762Read ↗

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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.Semantic proximity Read ↗

Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome.Semantic proximity Read ↗

Fragile-X syndrome: unique genetics of the heritable unstable element.Semantic proximity Read ↗

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.Semantic proximity Read ↗

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.Semantic proximity Read ↗

Fragile X genotype characterized by an unstable region of DNA.Semantic proximity Read ↗

Molecular studies of the fragile X syndrome.Semantic proximity Read ↗

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.Semantic proximity Read ↗

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

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.Semantic proximity Read ↗

Methylation and mutation patterns in the fragile X syndrome.Semantic proximity Read ↗

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