[Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy].

doi:10.3760/cma.j.issn.1003-9406.2016.06.004

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Article

[Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Li Shuang, Bai Ying, Zhao Zhenhua, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To perform mutation analysis for 81 unrelated patients with Duchenne/Becker muscular dystrophy (DMD/BMD) from Henan Province. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was used to detect potential deletion/duplications of the DMD gene. Those with single exon deletions were validated with PCR amplification and Sanger sequencing to rule out false positive results. Patients with...

Topics

Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
Female
Gene Deletion
Gene Duplication
Humans
Infant
Male
Middle Aged
Muscular Dystrophy, Duchenne
Mutation
Young Adult

Source

Open in PubMed

Identifiers

PMID: 27984601
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.004

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Variants

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