Journal article
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
- Abstract:
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This thesis addresses the genetic background of five spontaneous canine models of rare human disease. By utilizing genome-wide mapping methods, next-generation sequencing analyses and variant validation combined with detailed clinical and post-mortem examinations, we characterized new canine models, identified novel disease-associated variants and dissected their effects on health and morphology. In Study I, next-generation sequencing analysis in a Central Asian Shepherd dog affected by epid...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 2.8MB, Terms of use)
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- Publisher copy:
- 10.1007/s00439-021-02266-3
Authors
+ Astellas Foundation for Research on Metabolic Disorders
More from this funder
- Funder identifier:
- 10.13039/501100007263
- Publisher:
- Springer
- Journal:
- Human Genetics More from this journal
- Volume:
- 140
- Issue:
- 11
- Pages:
- 1569-1579
- Publication date:
- 2021-02-19
- DOI:
- EISSN:
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1432-1203
- ISSN:
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0340-6717
- Language:
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English
- Keywords:
- Pubs id:
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1232968
- Local pid:
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pubs:1232968
- Source identifiers:
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W3132286508
- Deposit date:
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2026-04-09
- ARK identifier:
This ORA record was generated from metadata provided by an external service. It has not been edited by the ORA Team.
Terms of use
- Copyright date:
- 2021
- Licence:
- CC Attribution (CC BY)
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