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Article

[c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2015

Yan Yuanlong, Yang Yuan

Abstract excerpt

OBJECTIVE: To clarify the nature of a DMD splice acceptor mutation c.2381-3T>C. METHODS: Genomic DNA was extracted from 5 members of a family affected with DMD. For an obligatory carrier, after excluding gross deletion and duplication of the DMD gene with multiplex ligation-dependent probe amplification (MLPA) method, all coding and splice site sequences of the DMD gene were analyzed with Next Generation...

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Share to Dystrophin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25636106
DOI: 10.3760/cma.j.issn.1003-9406.2015.01.017

Genes

DMD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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