A Novel OPA3 Mutation Revealed by Exome Sequencing
نویسندگان
چکیده
منابع مشابه
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
IMPORTANCE We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype. OBSERVATIONS Neurological and ophthalmological examination, including videotaping and fundoscopy, and genetic investigations, including homozygosity mapping and exome sequencing, were performed at the University of the Punjab and the University of Lübeck. Participants ...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.1174