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Article

Splicing mutation of a gene within the Duchenne muscular dystrophy family.

Genetics and molecular research : GMR - 14 Jul 2016

Zhu Y B, Gan J H, Luo J W, Zheng X Y, Wei S C, Hu D

Abstract excerpt

The aim of this study was to identify the mutation site and phenotype of the Duchenne muscular dystrophy (DMD) gene in a DMD family. The DMD gene is by far the largest known gene in humans. Up to 34% of the point mutations reported to date affect splice sites of the DMD gene. However, no hotspot mutation has been reported. Capture sequencing of second-generation exons was used to investigate the DMD gene in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27421007
DOI: 10.4238/gmr.15028258

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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