Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype

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 Microsco...

Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: R üdiger Schultz, Varpu Elenius, Heikki Lukkarinen and Tanja Saarela Tags: Research article Source Type: research