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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: 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
Lenguaje:Inglês
Publicado: Elsevier 2013
Materias:
Report
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares