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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.

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0 Published in 2018 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2018.03.024

Abstract: Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme… read more here.

Keywords: primary ciliary; ciliary dyskinesia; intraflagellar transport; transport ... See more keywords