Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene-Reference-Cited by-同舟云学术

Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene

Published:2020-01-02 Issue:1 Volume:41 Page:90-92
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Beigi Fahimeh¹,Del Pozo-Valero Marta²,Martin-Merida Inmaculada²³,Vahidi Mehrjardi Mohammad Yahya¹,Manaviat Masoud Reza⁴,Sherafat Amir⁵,Ayuso Carmen²³,Ghasemi Nasrin¹⁶

Affiliation:

1. Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2. Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain

3. CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain

4. Department of Ophthalmology, Shahid Sadoughi University of Medical Science, Yazd Diabetes Research Center, Yazd, Iran

5. Department of Neurology, Faculty of Medicine, Bam University of Medical Sciences, Bam, Iran

6. Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Funder

Shahid Sadoughi University of Medical Sciences and Health Services Yazd, IR

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1720743

Reference14 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. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

4. A general framework for estimating the relative pathogenicity of human genetic variants

5. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

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