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Article

[A case pf spontaneous deletion in the FMR1 gene in a patient with the Martin-Bell syndrome].

TSitologiia i genetika - 1 Jan 2000

Maliarchuk S G, Bychkova A M, Lee S, Verteletskiĭ V, Livshits L A

Abstract excerpt

The spontaneous deletion in FMR1 gene in a patient with the typical Fragile X phenotype was described. It was assumed that this deletion is located around CGG region in Pst1 fragment of the gene. The alleles with normal range of CGG copies and corresponding to premutation and full mutation ranges were revealed in mother-mosaic of proband. The possible mechanisms of trinucleotide repeat sequence instability are...

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Source

Identifiers

PMID: 9381553

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[A case pf spontaneous deletion in the FMR1 gene in a patient with the Martin-Bell syndrome].PMID 9381553Read ↗

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