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

Abstract 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 u...

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Main Authors: Rüdiger Schultz (Author), Varpu Elenius (Author), Heikki Lukkarinen (Author), Tanja Saarela (Author)
Format: Book
Published: BMC, 2020-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available