Article

Prenatal diagnosis of Duchenne muscular dystrophy and cytogenetic analysis in 303 Chinese families

2020-03-09

Abstract excerpt

<title>Abstract</title> <p>Background: Duchenne muscular dystrophy (DMD) has showed a wide spectrum of mutations in the dystrophin gene including exon deletions, duplications and small mutations. This retrospective study was to supply information of the DMD mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD genetic counselling and prenatal diagnosis. <h4>Methods:</h4>...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8c8edc83-697a-54d8-9235-b21a57d34be9
DOI: 10.21203/rs.3.rs-16316/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of Duchenne muscular dystrophy and cytogenetic analysis in 303 Chinese familiesDOI 10.21203/rs.3.rs-16316/v1Read

An analysis of prenatal diagnosis of 1408 fetuses with Duchenne/Becker muscular dystrophy family historySemantic proximity Read

Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.Semantic proximity Read

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

Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.Semantic proximity Read

[Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis].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

[Genetic testing and prenatal diagnosis of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy].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

Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South ChinaSemantic proximity Read

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

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variantsSemantic proximity Read

DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.Semantic proximity Read