- Abstract:
-
FLVCR1 (feline leukemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration. We sugge...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Accepted Manuscript
- Files:
-
-
(pdf, 1.1MB)
-
- Publisher copy:
- 10.1080/13816810.2017.1408848
-
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- Publisher:
- Taylor & Francis Publisher's website
- Journal:
- Ophthalmic Genetics Journal website
- Volume:
- 39
- Issue:
- 2
- Pages:
- 263-267
- Publication date:
- 2017-12-01
- Acceptance date:
- 2017-11-19
- DOI:
- EISSN:
-
1744-5094
- ISSN:
-
1381-6810
- Pubs id:
-
pubs:807750
- URN:
-
uri:59dd0d08-2c90-4f42-a89a-eceb299f46e8
- UUID:
-
uuid:59dd0d08-2c90-4f42-a89a-eceb299f46e8
- Local pid:
- pubs:807750
- Copyright holder:
- Taylor & Francis
- Copyright date:
- 2017
- Notes:
-
Copyright © 2017 Taylor & Francis. This is the accepted manuscript version of the article. The final version is available online from Taylor & Francis at: https://doi.org/10.1080/13816810.2017.1408848
Journal article
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
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