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Mutations in <i>C11ORF70</i> cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects

2017-11-14

Abstract excerpt

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility and randomization of the left/right body axis caused by defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open reading frame C11ORF70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high resolution immunofluorescence microscopy demons...

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Literature Corpus work
6f7df954-b27e-503f-863a-fba209d21e0d
DOI
10.1101/218206
Open publication

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Mutations in <i>C11ORF70</i> cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defectsDOI 10.1101/218206
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