A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
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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