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Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.

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0 Published in 2019 at "Kidney international"

DOI: 10.1016/j.kint.2018.08.014

Abstract: Although sequence variants in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS), definitive proof of causality in human disease is meager. By whole-exome sequencing, we identified a homozygous frame-shift mutation… read more here.

Keywords: mutation; focal segmental; cd2ap; segmental glomerulosclerosis ... See more keywords