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Journal article

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1080/13816810.2017.1408848

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Oxford college:
Merton College
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Role:
Author
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

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