Article

Biallelic Mutations in <i>LRRC56</i> encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

2018-03-27

Abstract excerpt

<h4>ABSTRACT</h4> Defective motile cilia are responsible for a group of heterogeneous genetic conditions characterised by dysfunction of the apparatus responsible for generating fluid flows. Primary ciliary dyskinesia (PCD) is the prototype for such disorders and presents with impaired pulmonary mucus clearance, susceptibility to chronic recurrent respiratory infections, male infertility and laterality defects in...

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Literature Corpus work: a15f18e2-7f93-5b19-b8c6-01dc75d43410
DOI: 10.1101/288852

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