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Article

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

Neurogenetics - 1 Nov 2007

Gómez-Curet Ilsa, Robinson Karyn G, Funanage Vicky L, Crawford Thomas O, Scavina Mena, Wang Wenlan

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1). The highly homologous gene, SMN2, is present in all patients, but it cannot compensate for loss of SMN1. SMN2 differs from SMN1 by a few nucleotide changes, but a C --> T transition in exon 7 leads to exon skipping. As a result, most transcripts from the SMN2 gene lack exon 7....

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Source

Identifiers

PMID: 17647030
DOI: 10.1007/s10048-007-0093-1

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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