Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Association of mutation types and distribution characteristics of dystrophin gene with clinical symptoms in Chinese population].

Yi chuan = Hereditas - 1 Mar 2011

Li Shao-Ying, Sun Xiao-Fang, Li Qing, Zhang Hui-Min, Wang Xiao-Man

Abstract excerpt

Duchenne muscular dystrophy (DMD) is X-linked disorder caused by mutations in the dystrophin gene. To investigate mutation types and distribution characteristics of dystrophin gene in Chinese DMD patients, we used Multiplex Ligation-Dependent Probe Amplification (MLPA) to analyze the dystrophin gene in 720 DMD patients, their mothers, and 20 normal adult males. Results showed that detection rate was 64.9%...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DMD gene

Share to Gene Duplication

Share to Muscular Dystrophy, Duchenne

Share to Mutation

Share to Nucleic Acid Amplification Techniques

Source

Identifiers

PMID: 21402533
DOI: 10.3724/sp.j.1005.2011.00251

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Association of mutation types and distribution characteristics of dystrophin gene with clinical symptoms in Chinese population].PMID 21402533Read ↗

[Relationship of phenotype with type of deletion of dystrophin gene].Semantic proximity Read ↗

[Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis].Semantic proximity Read ↗

[Gene Mutation Spectrum Analysis of 170 Patients with Duchenne/Bayesian Muscular Dystrophy in Southwest of China].Semantic proximity Read ↗

[Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy].Semantic proximity Read ↗

[Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].Semantic proximity Read ↗

Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.Semantic proximity Read ↗

[Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy].Semantic proximity Read ↗

Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.Semantic proximity Read ↗

Characteristics of dystrophin gene mutations among Chinese patients as revealed by multiplex ligation-dependent probe amplification.Semantic proximity Read ↗

Comprehensive genetic characteristics of dystrophinopathies in China.Semantic proximity Read ↗

[Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China].Semantic proximity Read ↗

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular DystrophySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.