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• W1997490017 endingPage "402" @default.
• W1997490017 startingPage "395" @default.
• W1997490017 abstract "Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations)." @default.
• W1997490017 created "2016-06-24" @default.
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• W1997490017 date "2015-03-17" @default.
• W1997490017 modified "2023-10-18" @default.
• W1997490017 title "The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations" @default.
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• W1997490017 doi "https://doi.org/10.1002/humu.22758" @default.
• W1997490017 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4405042" @default.
• W1997490017 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25604253" @default.
• W1997490017 hasPublicationYear "2015" @default.

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