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Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing wit...
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| Publicat a: | BMC Pulm Med |
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| Autors principals: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7229615/ https://ncbi.nlm.nih.gov/pubmed/32414360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12890-020-1175-1 |
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