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Article

[Clinical application of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2014

Jiang Yu, Peng Guilan, Wu Qichang, Zhou Yulin

Abstract excerpt

OBJECTIVE: To verify the reliability of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy (SMA) and establish quality control for clinical testing. METHODS: Thirty-five patients, 61 first-degree relatives, 61 healthy controls and 7 prenatal cases which were previously genotyped by multiplex ligation-dependent probe amplification (MLPA) were tested with Roche LightCycler 480...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24711027
DOI: 10.3760/cma.j.issn.1003-9406.2014.02.011

Genes

SMN1

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