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Primary ciliary dyskinesia in Amish communities

Primary ciliary dyskinesia (PCD) is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, based on clinical characteristics and ciliary ultrastructural de...

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Autors principals: Lie, Hauw, Zariwala, Maimoona A, Helms, Cynthia, Bowcock, Anne M, Carson, John L, Brown, David E, Hazucha, Milan J, Forsen, James, Molter, David, Knowles, Michael R, Leigh, Margaret W, Ferkol, Thomas W
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2875274/
https://ncbi.nlm.nih.gov/pubmed/20350728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2010.01.054
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