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[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].

Zhonghua yi xue za zhi - 10 Feb 2015

Zhang Wenhui, Cao Yanyan, Song Fang, Qu Yujin, Bai Jinli, Jin Yuwei, Wang Hong

Abstract excerpt

OBJECTIVE: To explore the diversity of mutations in survival motor neuron gene 1 (SMN1) by analyzing seven cases of partial deletion of SMN1 gene. METHODS: Seven patients suspected spinal muscular atrophy (SMA) were recruited from 2011 to 2013. Multiplex ligation-dependent probe amplification (MLPA) for genetic testing of SMA was based on the commercially available SALSA MLPA kit P021-A2. Then the data were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25916779

Genes

SMN1
SMN2

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

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