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Diagram of the ABCR gene with STGD and AMD alterations. Transmembrane domains predicted by hydropathy plot are shown as black bars, and the
ATP-binding domains are shown as hatched bars below. Arrows indicate alterations identified in both STGD1 and AMD patients shown mutations; D =
deletions; S = splice donor site mutations; X = stop codon-generating mutation. The number at the right signifies the last codon.
Source: Inherited Macular Dystrophies and Susceptibility to Degeneration, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular
Bases of Inherited Disease; 2014 Available at: http://mhmedical.com/ Accessed: August 03, 2017
Copyright © 2017 McGraw-Hill Education. All rights reserved
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