Clinical and molecular consequences of exon 78 deletion in DMD gene

No abstract is available for this paper.

• Publication year

  2018

• Venue

  Journal of Human Genetics

• Publication date

  2018-03-19

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/s10038-018-0439-6PMID 29556034
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The importance of genetic diagnosis for Duchenne muscular dystrophy

  2016cited by this paper
• Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

  2015cited by this paper
• Duchenne and Becker muscular dystrophies.

  2014cited by this paper
• Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach.

  2007cited by this paper
• Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule

  2006cited by this paper
• Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

  2001cited by this paper
• Assembly of the Dystrophin-Associated Protein Complex Does Not Require the Dystrophin Cooh-Terminal Domain

  2000cited by this paper
• The structural and functional diversity of dystrophin

  1993cited by this paper
• Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

  1989cited by this paper
• The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

  1989cited by this paper
• Genetics of Duchenne muscular dystrophy.

  1988cited by this paper
• The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

  1988cited by this paper

• Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes

  2024cites this paper
• DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis

  2024cites this paper
• Gene-editing, immunological and iPSCs based therapeutics for muscular dystrophy.

  2021cites this paper
• An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I

  2020cites this paper
• First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene

  2020cites this paper
• EMQN best practice guidelines for genetic testing in dystrophinopathies

  2020cites this paper
• What is the ocular phenotype associated with a single exon 78 deletion in Duchenne muscular dystrophy?

  2020cites this paper
• Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype

  2019cites this paper