Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing
- DOI
- 10.1007/978-3-030-27378-1_31
- Published
- 2019
- Container
- Advances in Experimental Medicine and Biology
- Publisher
- Springer International Publishing
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1007/978-3-030-27378-1_31,
title = {Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing},
author = {Iris Barny and Isabelle Perrault and Marlène Rio and Hélène Dollfus and Sabine Defoort-Dhellemmes and Josseline Kaplan and Jean-Michel Rozet and Xavier Gerard},
year = {2019},
journal = {Advances in Experimental Medicine and Biology},
doi = {10.1007/978-3-030-27378-1_31},
url = {https://doi.org/10.1007/978-3-030-27378-1_31}
}RIS
TY - JOUR TI - Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing AU - Iris Barny AU - Isabelle Perrault AU - Marlène Rio AU - Hélène Dollfus AU - Sabine Defoort-Dhellemmes AU - Josseline Kaplan AU - Jean-Michel Rozet AU - Xavier Gerard PY - 2019 JO - Advances in Experimental Medicine and Biology DO - 10.1007/978-3-030-27378-1_31 UR - https://doi.org/10.1007/978-3-030-27378-1_31 ER -
APA
Barny, I., Perrault, I., Rio, M., Dollfus, H., Defoort-Dhellemmes, S., Kaplan, J., Rozet, J., & Gerard, X. (2019). Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing. Advances in Experimental Medicine and Biology. https://doi.org/10.1007/978-3-030-27378-1_31
Source records
- crossref · retrieved 2026-09-26T14:12:21.252Z