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Article

Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.

Clinical biochemistry - 1 Jan 2012

Maranda Bruno, Fan Li, Soucy Jean-François, Simard Louise, Mitchell Grant A

Abstract excerpt

OBJECTIVES: To describe and validate a new protocol for molecular diagnosis of spinal muscular atrophy (SMA), a frequent neuromuscular disease of childhood. DESIGN AND METHODS: SMA is caused in most cases by homozygous deletion of the SMN1 gene. We describe a triplex quantitative real-time PCR method in which fragments of SMN1, SMN2 (a nearly-identical neighboring gene with markedly reduced function) and of a...

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Source

Identifiers

PMID: 22085534
DOI: 10.1016/j.clinbiochem.2011.10.019

Genes

SMN1
SMN2
CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.PMID 22085534Read ↗

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