Article

Genotype & Phenotype in Lowe Syndrome: Specific <i>OCRL1</i> patient mutations differentially impact cellular phenotypes

2020-08-05

Abstract excerpt

<h4>ABSTRACT</h4> Lowe Syndrome (LS) is a lethal genetic disorder caused by mutations in the OCRL1 gene which encodes the lipid 5’ phosphatase Ocrl1. Patients exhibit a characteristic triad of symptoms including eyes, brain and kidneys abnormalities with renal failure as the most common cause of premature death. Over 200 OCRL1 mutations have been identified in LS, but their specific impact on cellular processes...

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Literature Corpus work: 60163cf3-fc9a-5c3a-b1d8-407910d744be
DOI: 10.1101/2020.08.04.236612

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