The Role of Molecular Genetic Analysis in the Diagnosis of Primary Ciliary Dyskinesia

Rationale: Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disorder of motile cilia. The diagnosis of PCD has previously relied on ciliary analysis with transmission electron microscopy or video microscopy. However, patients with PCD may have normal ultrastructural appearance, and...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kim, Raymond H., A. Hall, David, Cutz, Ernest, Knowles, Michael R., Nelligan, Kathleen A., Nykamp, Keith, Zariwala, Maimoona A., Dell, Sharon D.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Thoracic Society 2014
Pynciau:
Original Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4028737/
https://ncbi.nlm.nih.gov/pubmed/24498942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1513/AnnalsATS.201306-194OC
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