Chargement en cours...
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype
BACKGROUND: Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microscopy (TEM) are not applicable for mutations in the DNAH11 gene since ultrastru...
Enregistré dans:
| Publié dans: | BMC Med Genet |
|---|---|
| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2020
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7690114/ https://ncbi.nlm.nih.gov/pubmed/33243178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01171-2 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|