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Article

Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.

The Journal of molecular diagnostics : JMD - 1 Jan 2011

Zeng Jian, Lin Yanhong, Yan Aizhen, Ke Longfeng, Zhu Zhongyong, Lan Fenghua

Abstract excerpt

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn of the spinal cord. The disease gene survival motor neuron 1 (SMN1) is homozygously absent in approximately 95% of patients, and approximately 5% of patients are believed to have subtle mutations. Although methods for molecular diagnosis of SMA have been reported singly, no...

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Identifiers

PMID: 21227393
DOI: 10.1016/j.jmoldx.2010.11.009
PMCID: PMC3069831

Genes

SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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