2016•PubMedRequires access

[Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in Southwest China.]

Minjin Wang, Jun Wang, Meng-Ge Bai, Wenjing Zhou, Lijuan Wu, Sishi Tang, Xiaojun Lu, Binwu Ying

Abstract

OBJECTIVES: To investigate the molecular features of spinal muscular atrophy (SMA) related genes in SMA patients of Han nationality of southwest of China. METHODS: ) were measured by using multiplex ligation-dependent probe amplification (MLPA). RESULTS: gene. CONCLUSIONS: copy number can affect the severity of SMA.

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Key concepts: SMN1, SMA*, Exon, Spinal muscular atrophy, Multiplex ligation-dependent probe amplification, Biology, Gene, Copy-number variation