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Article

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.

BMC medical genetics - 5 Aug 2013

Gatta Valentina, Gennaro Elena, Franchi Sara, Cecconi Massimiliano, Antonucci Ivana, Tommasi Marco, Palka Giandomenico, Coviello Domenico, Stuppia Liborio, Grasso Marina

Abstract excerpt

BACKGROUND: Fragile X Syndrome (FXS), the most common cause of familiar mental retardation, is associated in over 99% of cases to an expansion over 200 repeats of a CGG sequence in the 5' UTR of the FMR1 gene (Xq27.3), leading to the hypermethylation of the promoter. Molecular diagnosis of FXS ha...

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Source

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Identifiers

PMID: 23914933
DOI: 10.1186/1471-2350-14-79
PMCID: PMC3751107

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23914933-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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