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Article

Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots.

Biochemical and molecular medicine - 1 Oct 1995

Dawson A J, Chodirker B N, Chudley A E

Abstract excerpt

The fragile X(A) or FRAXA syndrome is the most common form of familial mental retardation and is associated with a fragile site at Xq27.3. The gene responsible for the FRAXA syndrome, the FMR1 gene, has been cloned. inactivation of the FMR1 gene is associated with amplification of a trinucle-otide CGG repeat sequence and methylation of an adjacent CpG island. Previous estimates for the prevalence of the FRAXA...

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Source

Identifiers

PMID: 8593539
DOI: 10.1006/bmme.1995.1057

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.

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Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots.PMID 8593539Read ↗

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