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<i>C11orf70</i> mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins

2017-10-31

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomised left-right body asymmetry. PCD is mostly caused by mutations affecting components of the core axoneme structure of motile cilia that are essential for cilia movement. In addition, there is a growing group of PCD genes that encode...

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Literature Corpus work
1c9daba8-d44b-50b8-a926-2fbfcc8e3c1a
DOI
10.1101/211953
Open publication

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<i>C11orf70</i> mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneinsDOI 10.1101/211953
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