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Article

[Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2007

Chen Ya-nan, Zhou Xin, Jin Chun-lian, Xu Yan, Lin Chang-kun, Cao Li-hua, Li Ning, Zhang Xue, Luo Yang

Abstract excerpt

OBJECTIVE: Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by dystrophin gene mutations; 55%-65% of these pathogenic mutations are large deletion and duplication mutations that can be detected by multiplexed polymerase chain reaction. However, finding the remaining micro-mutations (substitutions, deletions or insertions of one or several nucleotides) cannot be achieved in this way. The...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17880784

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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