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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Gepubliceerd in:Ann Transl Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: AME Publishing Company 2015
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Part 4: Oral/poster
Online toegang: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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