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Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare disorder that affects the biogenesis or function of motile cilia resulting in chronic airway disease. PCD is genetically and phenotypically heterogeneous, with causative mutations identified in over 40 genes; however, the genetic basis of many cases is unkn...
Guardat en:
| Publicat a: | J Hum Genet |
|---|---|
| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6920546/ https://ncbi.nlm.nih.gov/pubmed/31636325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-019-0686-1 |
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