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Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

Hereditary hearing loss is genetically heterogeneous, with a large number of genes and mutations contributing to this sensory, often monogenic, disease. This number, as well as large size, precludes comprehensive genetic diagnosis of all known deafness genes. A combination of targeted genomic captur...

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Detalhes bibliográficos
Main Authors: Brownstein, Zippora, Abu-Rayyan, Amal, Karfunkel-Doron, Daphne, Sirigu, Serena, Davidov, Bella, Shohat, Mordechai, Frydman, Moshe, Houdusse, Anne, Kanaan, Moien, Avraham, Karen B
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023209/
https://ncbi.nlm.nih.gov/pubmed/24105371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.232
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