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Article

Heteroduplex formation in SMN gene dosage analysis.

The Journal of molecular diagnostics : JMD - 1 Nov 2001

Ogino S, Leonard D G, Rennert H, Gao S, Wilson R B

Abstract excerpt

Most spinal muscular atrophy patients lack both copies of SMN1 exon 7 and most carriers have only one copy of SMN1 exon 7. We investigated the effect of SMN1/SMN2 heteroduplex formation on SMN gene dosage analysis, which is an assay to determine copy number of SMN1 exon 7 that utilizes multiplex quantitative polymerase chain reaction (PCR) with DraI digestion to differentiate SMN1 from SMN2. Heteroduplex...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 11687598
DOI: 10.1016/S1525-1578(10)60666-6
PMCID: PMC1906961

Genes

SMN1
SMN2

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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Genetic testing and risk assessment for spinal muscular atrophy (SMA).Semantic proximity Read ↗

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