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Article

[Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Li Huanzheng, Xu Chenyang, Mao Yijian, Lu Jinfang, Xiang Yanbao, Xu Xueqin, Tang Shaohua

Abstract excerpt

OBJECTIVE: To establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those...

Topics

Adolescent
Child
Child, Preschool
DNA Mutational Analysis
Exons
Female
Humans
Male
Multiplex Polymerase Chain Reaction
Muscular Dystrophy, Duchenne

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Pregnancy

Prenatal Diagnosis

Source

Identifiers

PMID: 29652985
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.005

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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