Neuro-ophthalmological syndrome 3-methylglutaconic aciduria : a molecular and functional study of the B6; C3-Opa3L122P mouse model
Introduction: OPA3 is the causative gene of the autosomal recessive, multi-systemic neuro- ophthalmological syndrome, 3-methylglutaconic aciduria Type III (MGA-III) and Autosomal Dominant Optic Atrophy and Cataract (ADOAC). Early onset bilateral optic atrophy is a common characteristic of both disor...
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Cardiff University
2010
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.585004 |