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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5774, doi. 10.1093/hmg/ddu291
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- Article
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 5, p. 865, doi. 10.1007/s00417-015-3142-8
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- Publication type:
- Article
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1187, doi. 10.1002/humu.22626
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- Article