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Article

Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2008

Zeng Jian, Lan Fenghua, Deng Xiaojun, Ke Longfeng, Tu Xiangdong, Huang Lianghu, Zheng Dezhu, Zhu Zhongyong

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn of the spinal cord, leading to symmetric muscle weakness and atrophy. About 95% of SMA patients have homozygous loss of SMN1 which can be detected by conventional PCR-RFLP testing. However, the method cannot distinguish heterozygous healthy carriers. A quantitative...

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Source

Identifiers

PMID: 18782569
DOI: 10.1016/j.cca.2008.08.015

Genes

SMN1

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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