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

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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Bibliographic Details
Main Authors: Yan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, Jin-Li Bai, Yu-Wei Jin, Hong Wang, Fang Song
Format: Article
Language:English
Published: Wolters Kluwer 2018-01-01
Series:Chinese Medical Journal
Subjects:
Mutation Surveyor Software; Quantitative Analysis; Sanger DNA Sequencing; Spinal Muscular Atrophy
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=24;spage=2921;epage=2929;aulast=Cao

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http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=24;spage=2921;epage=2929;aulast=Cao

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