Article

The effect of <i>Dnaaf5</i> gene dosage on primary ciliary dyskinesia phenotypes

2023-01-14

Abstract excerpt

DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ciliary dyskinesia (PCD). The effects of allele heterozygosity on motile cilia function are unknown. We used CRISPR-Cas9 genome editing in mice to recreate a human missense variant identified in patients with mild PCD and a second, frameshift null deletion in Dnaaf5 . Litters with Dnaaf...

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Literature Corpus work: bd93d248-13f0-5643-b750-17d033b69c2b
DOI: 10.1101/2023.01.13.523966

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