Article
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Investigative ophthalmology & visual science - 1 Sept 2016
Fakin Ana, Robson Anthony G, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Pei-Wen Chiang John, E Holder Graham, Webster Andrew R
Abstract excerpt
PURPOSE: We describe the phenotypes associated with nullizigosity and nine splicing mutations in the ABCA4 gene. METHODS: The study included 19 patients with biallelic null mutations (Group A, nullizygous), 27 with splicing mutations in the homozygous state or in trans with a null mutation (Group B), and 20 with p.G1961E in trans with a null mutation (Group C, control). Ages at onset and visual acuities were...
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