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Article

Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis.

The Journal of molecular diagnostics : JMD - 1 Nov 2002

Ogino Shuji, Wilson Robert B

Abstract excerpt

Approximately 94% of patients with spinal muscular atrophy lack both copies of SMN1 exon 7, and most carriers have only one copy of SMN1 exon 7. We described previously the effect of SMN1/SMN2 heteroduplex formation on SMN gene dosage analysis, which is a multiplex quantitative PCR assay to determine the copy numbers of SMN1 and SMN2 using DraI digestion to differentiate SMN2 from SMN1. We describe herein the...

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Source

Open in PubMed Open full text

Identifiers

PMID: 12411585
DOI: 10.1016/S1525-1578(10)60702-7
PMCID: PMC3278980

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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