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Article

Instability of a (CGG)98 repeat in the Fmr1 promoter.

Human molecular genetics - 1 Aug 2001

Bontekoe C J, Bakker C E, Nieuwenhuizen I M, van der Linde H, Lans H, de Lange D, Hirst M C, Oostra B A

Abstract excerpt

Fragile X syndrome is one of 14 trinucleotide repeat diseases. It arises due to expansion of a CGG repeat which is present in the 5'-untranslated region of the FMR1 gene, disruption of which leads to mental retardation. The mechanisms involved in trinucleotide repeat expansion are poorly understood and to date, transgenic mouse models containing transgenic expanded CGG repeats have failed to reproduce the...

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Source

Identifiers

PMID: 11487573
DOI: 10.1093/hmg/10.16.1693

Genes

FMR1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Instability of a (CGG)98 repeat in the Fmr1 promoter.PMID 11487573Read ↗

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

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

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