Article
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Investigative ophthalmology & visual science - 1 Dec 2015
Zhang Alice Yang, Mysore Naveen, Vali Hojatollah, Koenekoop Jamie, Cao Sang Ni, Li Shen, Ren Huanan, Keser Vafa, Lopez-Solache Irma, Siddiqui Sorath Noorani, Khan Ayesha, Mui Jeannie, Sears Kelly, Dixon Jim, Schwartzentruber Jeremy, Majewski Jacek, Braverman Nancy, Koenekoop Robert K
Abstract excerpt
PURPOSE: Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are associated with known mutations in over 250 disease genes, prompting our research program to identify the remaining new genes. Most retinal degenerations are restricted to the retina, but photoreceptor degenerations can also be found in a wide variety...
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