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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...

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Source

Identifiers

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

Genes

DMD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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