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Article

[Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].

Zhonghua yi xue za zhi - 16 Dec 2008

Zeng Jian, Ke Long-feng, Deng Xiao-jun, Cai Mei-ying, Tu Xiang-dong, Lan Feng-hua

Abstract excerpt

OBJECTIVE: To investigate the effect of multiplex ligation-dependent probe amplification (MLPA) in molecular diagnosis of spinal muscular atrophy (SMA). METHODS: Peripheral blood samples were collected from 13 SMA patients, 31 parents of SMA patients, 50 healthy individuals without family history of SMA, and 10 specimens of amniotic fluid from these families were collected too. Genomic DNA was analyzed by MLPA,...

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Identifiers

PMID: 19159550

Genes

SMN1
SMN2

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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