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Article

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

BMC medical genetics - 5 Aug 2013

Jorge Paula, Oliveira Bárbara, Marques Isabel, Santos Rosário

Abstract excerpt

BACKGROUND: X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly males. There are several genetic causes implicated in this condition, which has hampered the establishment of an accurate diagnosis. We developed a multiplex-PCR assay for the mutational...

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Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23914978
DOI: 10.1186/1471-2350-14-80
PMCID: PMC3751858

Genes

AFF2
FMR1
ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23914978-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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