DES-Mutation specifications

Information


Unique identifier OMICS_32000
Name DES-Mutation
Restrictions to use Academic or non-commercial use
Database management system PostgreSQL
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

Documentation


Maintainer


  • person_outline Vladimir Bajic

DES-Mutation citation

library_books

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

2017
PMCID: 5902401
PMID: 29274115
DOI: 10.1002/mgg3.358

[…] guidelines of the American College of Medical Genetics and Genomics (ACMG), a moderate criterion for pathogenicity (Richards et al., ).A meta‐analysis of DES mutations revealed that about 50% of the DES mutation carriers developed cardiomyopathy and about 60% had a conduction disease with atrioventricular block (van Spaendonck‐Zwarts et al., ). Desmin is highly expressed in cells of the Purkinje […]

DES-Mutation institution(s)
King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal, Saudi Arabia; King Abdulaziz University (KAU), Faculty of Applied Medical Sciences (FAMS), Department of Medical Laboratory Technology (MLT), Jeddah, Saudi Arabia; Ghent University, Center for Medical Genetics Ghent (CMGG), Ghent, Belgium
DES-Mutation funding source(s)
Supported by the King Abdullah University of Science and Technology (KAUST) Office of Sponsored Research (OSR) under Awards No FCC/1/1976-02, and KAUST Base Research Fund (BAS/1/1606-01-01).

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