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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Schultz, Rüdiger, Elenius, Varpu, Lukkarinen, Heikki, Saarela, Tanja
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha: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
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