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Article

Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis.

Electrophoresis - 1 Jul 2010

Wang Chun-Chi, Chang Jan-Gowth, Chen Yen-Ling, Jong Yuh-Jyh, Wu Shou-Mei

Abstract excerpt

In this study, we established the first method for simultaneous evaluation of nine exons in the survival motor neuron (SMN) genes for full-scale genotyping. This method was used not only to quantify the copy numbers of highly homogenous telomeric SMN (SMN1)/centromeric SMN genes in exons 7 and 8 but also to determine intragenic mutations in all nine exons for complete diagnosis of spinal muscular atrophy (SMA)....

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Source

Identifiers

PMID: 20564270
DOI: 10.1002/elps.201000124

Genes

SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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