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Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing mutations have been identified in 14 genes, but they collectively account for only ∼60% of all PCD. To identify mutations th...

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Detalhes bibliográficos
Main Authors: Knowles, Michael R., Leigh, Margaret W., Ostrowski, Lawrence E., Huang, Lu, Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Berg, Jonathan S., Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Rosenfeld, Margaret, Sagel, Scott D., Milla, Carlos E., Olivier, Kenneth N., Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Shendure, Jay, Zariwala, Maimoona A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542458/
https://ncbi.nlm.nih.gov/pubmed/23261302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.11.003
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