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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Autors principals: Kim, Raymond H., A. Hall, David, Cutz, Ernest, Knowles, Michael R., Nelligan, Kathleen A., Nykamp, Keith, Zariwala, Maimoona A., Dell, Sharon D.
Format: Artigo
Idioma:Inglês
Publicat: American Thoracic Society 2014
Matèries:
Original Research
Accés en línia: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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