Article
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.
Neurobiology of aging - 1 Dec 2012
Johnson Lauren, Miller Jack W, Gkazi Athina Soragia, Vance Caroline, Topp Simon D, Newhouse Stephen J, Al-Chalabi Ammar, Smith Bradley N, Shaw Christopher E
Abstract excerpt
Variants within the optineurin gene (OPTN) are recognized as causative mutations for primary open angle glaucoma. However, 4 different nonsynonymous and 3 different exonic deletion OPTN mutations have recently been identified in Japanese amyotrophic lateral sclerosis (ALS) patients. We sought to characterize OPTN genetic variation in a British cohort of ALS cases of Northern European origin. The coding portion of...
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