A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy-Reference-Cited by-同舟云学术

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A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy

Published:2021-07-06 Issue:6 Volume:42 Page:747-752
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Mermeklieva Elena¹^ORCID,Kamenarova Kunka²,Mihova Kalina²,Shakola Felitsiya²,Kaneva Radka²

Affiliation:

1. Clinic of Оphthalmology, “Lozenetz“ University Hospital, Medical Faculty, Sofia University “St. Kliment Ohridski”, Sofia, Bulgaria

2. Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Sofia, Bulgaria

Funder

NSF, MES, Bulgaria

Medical University of Sofia, Bulgaria

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1946700

Reference28 articles.

1. AAO. Retina and vitreous Basic and clinical science course 2017-2018. 2017;180–215.

2. RP1L1 and inherited photoreceptor disease: A review

3. Rod disc renewal occurs by evagination of the ciliary plasma membrane that makes cadherin-based contacts with the inner segment

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A pan-cancer analysis of RGR opsin expression and its downregulation associated with poor prognosis in glioma;Neoplasma;2023

2. Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies;Molecular Genetics & Genomic Medicine;2022-06-03

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