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...

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Detalles Bibliográficos
Autores principales: Schultz, Rüdiger, Elenius, Varpu, Lukkarinen, Heikki, Saarela, Tanja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690114/
https://www.ncbi.nlm.nih.gov/pubmed/33243178
http://dx.doi.org/10.1186/s12881-020-01171-2

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