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Article

[Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage].

No to hattatsu = Brain and development - 1 Sept 2005

Saito Makiko, Chen Yuyan, Mizuguchi Masashi, Igarashi Takashi

Abstract excerpt

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder, caused by homozygous deletion of the survival motor neuron gene 1 (SMN1). SMN2, a gene highly homologous to SMN1, is considered to influence the severity of SMA. Patients with SMA have been classified into three types on the basis of age at onset and clinical severity. In the present study, we performed a quantitative analysis of SMN2 in 22...

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Source

Identifiers

PMID: 16164247

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage].PMID 16164247Read ↗

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