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Article

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.

The Journal of molecular diagnostics : JMD - 1 Sept 2016

Qu Yu-Jin, Bai Jin-Li, Cao Yan-Yan, Wang Hong, Jin Yu-Wei, Du Juan, Ge Xiu-Shan, Zhang Wen-Hui, Li Yan, He Sheng-Xi, Song Fang

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder caused by deletion or mutation of the survival of motor neuron 1 (SMN1). Here, we studied SMA molecular pathology in 653 Chinese patients and found approximately 88.2% with homozygous SMN1 exon 7 deletion and 6.3% with heterozygous exon 7 loss using multiplex ligation-dependent probe amplification. SMN1 variants were detected in...

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Source

Identifiers

PMID: 27425821
DOI: 10.1016/j.jmoldx.2016.05.004

Genes

SMN1

Variants

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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