Article
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.
Advances in experimental medicine and biology - 1 Jan 2019
Thompson Jennifer A, Chiang John Pei-Wen, De Roach John N, McLaren Terri L, Chen Fred K, Hoffmann Ling, Campbell Isabella, Lamey Tina M
Abstract excerpt
Inherited retinal diseases (IRDs) are genetically and phenotypically diverse, and they cause significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine strategies, and thus the molecular characterisation of causative variants is becoming increasingly important with the promise of personalised therapies on the horizon. ABCA4, involved in the translocation of visual cycle derivatives,...
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