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Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing

BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA. METHODS: A total of 1494 children suspected...

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Detalles Bibliográficos
Autores principales:	Cao, Yan-Yan, Zhang, Wen-Hui, Qu, Yu-Jin, Bai, Jin-Li, Jin, Yu-Wei, Wang, Hong, Song, Fang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302647/ https://www.ncbi.nlm.nih.gov/pubmed/30539904 http://dx.doi.org/10.4103/0366-6999.247198

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