A sequencing study has shown mutations in common genes in juvenile autosomal recessive retinitis pigmentosa (ARRP) and Leber’s congenital amaurosis (LCA), suggesting that the diseases are closely related and explaining their clinical similarity.
Mutations in the commonest genes causing LCA were found in a panel of unrelated patients with juvenile …
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Online ISSN 1468-2079
Copyright © 2012 by the BMJ Publishing Group Ltd. All rights reserved.
