Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Radboud University Nijmegen · Radboud University Medical Center · +4 more institutions
Indexed incrossrefpubmed
Abstract
No abstract available for this paper.
Citation impact
674
total citations
- FWCI
- 14.45
- Percentile
- 100%
- References
- 21
Citations per year
Authors
14- AIAnneke I. den HollanderCorresponding
Radboud University Nijmegen, Radboud University Medical Center
- RKRobert K. Koenekoop
McGill University Health Centre
- SYSuzanne Yzer
Radboud University Nijmegen, Radboud University Medical Center, Rotterdam Eye Hospital
- ILIrma López
McGill University Health Centre
- MAMaarten Arends
Radboud University Nijmegen, Radboud University Medical Center
Topics & keywords
Topics
Keywords
- Genetics
- Exon
- Mutation
- Gene
- Biology
- Allele
- Blindness
- RNA splicing
UN Sustainable Development Goals
- Good health and well-being
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