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[Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016

Zou Yang, Xu Peiwen, Li Jie, Huang Sexin, Gao Ming, Kang Ranran, Gao Xuan, Gao Yuan

Abstract excerpt

OBJECTIVE: To explore the clinical application of droplet digital PCR (ddPCR) for genetic testing and prenatal diagnosis of spinal muscular atrophy (SMA) with deletion of SMN1 gene exon 7. METHODS: A total of 138 clinical samples, including 121 peripheral blood, 13 amniotic fluid, 2 umbilical cord blood and 2 chorionic villi from 56 SMA families, were tested by both ddPCR and multiplex ligation-dependent probe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27577201
DOI: 10.3760/cma.j.issn.1003-9406.2016.05.002

Genes

SMN1

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