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Article

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.

Clinical genetics - 1 Jun 2007

Giroux S, Dubé-Linteau A, Cardinal G, Labelle Y, Laflamme N, Giguère Y, Rousseau F

Abstract excerpt

Inherited deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a severe, sometimes fatal disorder. A single mutation in the MCAD gene, 985A>G, is involved in approximately 90% of cases. To evaluate the relevance of implementing a systematic population-based screening program in the province of Quebec using a biochemical test, we measured the prevalence of this mutation in a set of anonymous newborn samples...

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Source

Identifiers

PMID: 17539907
DOI: 10.1111/j.1399-0004.2007.00809.x

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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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Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.PMID 17539907Read ↗

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Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.Semantic proximity Read ↗

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