Article
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
European journal of medical genetics - 1 Dec 2017
Nakanishi Keita, Nozu Kandai, Hiramoto Ryugo, Minamikawa Shogo, Yamamura Tomohiko, Fujimura Junya, Horinouchi Tomoko, Ninchoji Takeshi, Kaito Hiroshi, Morisada Naoya, Ishimori Shingo, Nakanishi Koichi, Morioka Ichiro, Awano Hiroyuki, Matsuo Masafumi, Iijima Kazumoto
Abstract excerpt
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 250 have been reported so far. Around 30 of these variants are intronic nucleotide changes; however, to show the pathogenicity of these variants is usually laborious....
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