Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference49 articles.
1. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
2. A Novel Mutation in theELOVL4Gene Causes Autosomal Dominant Stargardt-like Macular Dystrophy
3. Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
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2. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report;Acta Neuropathologica Communications;2023-08-11
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