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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Thoracic Society
2014
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| Assuntos: | |
| Acesso em linha: | 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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