A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.001
Abstract: Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than… read more here.
Keywords: ocrl; variant; comparison splicing; intronic variant ... See more keywords
Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2019020125
Abstract: BACKGROUND Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL, which encodes the enzyme OCRL. Symptoms of LS include proximal tubule (PT) dysfunction typically characterized by low molecular weight proteinuria, renal… read more here.
Keywords: proximal tubule; ocrl; lowe syndrome; cell ... See more keywords