Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
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- 1 September 2006
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 79 (3), 556-561
- https://doi.org/10.1086/507318
Abstract
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This publication has 18 references indexed in Scilit:
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- In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseHuman Molecular Genetics, 2006
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