AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques

BACKGROUND AND OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN). This article aims to identify the deletion exon 7 of SMN1/SMN2 genes in postnatal diagnosis and prenatal diagnosis with spinal muscula...

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Udgivet i:Ann Transl Med
Main Authors: Nguyen, Thi Phuong Mai, Nguyen, Thi Mai Huong, Ngo, Manh Tien, Ly, Thi Thanh Ha, Ngo, Thi Tuyet Nhung, An, Thuy Lan, Vu, Dinh Quang, Nguyen, Xuan Huy, Ngo, Diem Ngoc, Bui, Phuong Thao, Nguyen, Ngoc Khanh, Vu, Chi Dung, Tran, Danh Cuong
Format: Artigo
Sprog:Inglês
Udgivet: AME Publishing Company 2015
Fag:
Part 4: Oral/poster
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563514/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB140
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