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Article

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

BMC medical genetics - 20 Sept 2012

Yu-Jin Qu, Juan Du, Er-zhen Li, Jin-li Bai, Yu-wei Jin, Hong Wang, Fang Song

Abstract excerpt

BACKGROUND: Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood. Around 81~95% of SMA cases are a result of homozygous deletions of survival motor neuron gene 1 (SMN1) gene or gene conversions from SMN1 to SMN2. Less than 5% of cases showed rare subtle mutations in SMN1. Our aim was to identify subtle mutations in Chinese SMA patients carrying a single...

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Source

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Identifiers

PMID: 22994313
DOI: 10.1186/1471-2350-13-86
PMCID: PMC3523059

Genes

SMN1
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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