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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Bibliografiska uppgifter
I publikationen:Genet Med
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2014
Ämnen:
Original Research Article
Länkar: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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