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Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs in...

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Detalles Bibliográficos
Autores principales:	Fedick, Anastasia M, Jalas, Chaim, Treff, Nathan R, Knowles, Michael R, Zariwala, Maimoona A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2015
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367086/ https://www.ncbi.nlm.nih.gov/pubmed/25802884 http://dx.doi.org/10.1002/mgg3.124

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