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Article

A duplex allele-specific amplification PCR to detect SMN1 deletion.

Genetic testing and molecular biomarkers - 1 Apr 2009

Pieri Patrícia de Campos, Nogueira Jeronimo de Alencar, Marques-Dias Maria Joaquina, Resende Bernadete, Kim Chong Ae, Reed Umbertina Conti, Okay Thelma Suely

Abstract excerpt

Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13. SMN is present in two highly homologous copies (SMN1 and SMN2). In the general population, normal individuals (noncarriers) have at...

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Source

Identifiers

PMID: 19378506
DOI: 10.1089/gtmb.2008.0066

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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