A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia-Reference-Cited by-同舟云学术

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

Published:2017-12-01 Issue:2 Volume:39 Page:263-267
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Yusuf Imran H.¹²,Shanks Morag E³,Clouston Penny³,MacLaren Robert E.¹²

Affiliation:

1. Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford, UK

2. Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

3. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2017.1408848

Reference25 articles.

1. Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

2. Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

3. Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in theFLVCR1gene

4. Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity

5. An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa

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1. Unearthing FLVCR1a: tracing the path to a vital cellular transporter;Cellular and Molecular Life Sciences;2024-04-06

2. Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa;Neuropathology;2023-07-19

3. Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies;Biomolecules;2023-02-01

4. Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration;Nature Communications;2022-07-26

5. Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy;Investigative Opthalmology & Visual Science;2022-05-24

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