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Article

FMRP detection assay for the diagnosis of the fragile X syndrome.

American journal of medical genetics - 1 Jan 2000

Willemsen R, Oostra B A

Abstract excerpt

Fragile X syndrome is almost always caused by the absence or deficit of the FMR1 protein (FMRP). Diagnostic methods include polymerase chain reaction and Southern blotting, which are performed on DNA isolated from peripheral leukocytes. Recently, different immunocytochemical tests have been descr...

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Source

Identifiers

PMID: 11449486
DOI: 10.1002/1096-8628(200023)97:3<183::AID-AJMG1035>3.0.CO;2-3

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11449486-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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