Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

PURPOSE: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. METHODS:...

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Détails bibliographiques
Publié dans:Genet Med
Auteurs principaux: Vona, Barbara, Müller, Tobias, Nanda, Indrajit, Neuner, Cordula, Hofrichter, Michaela A. H., Schröder, Jörg, Bartsch, Oliver, Läßig, Anne, Keilmann, Annerose, Schraven, Sebastian, Kraus, Fabian, Shehata-Dieler, Wafaa, Haaf, Thomas
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2014
Sujets:
Original Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4262760/
https://ncbi.nlm.nih.gov/pubmed/24875298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.65
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