Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients-Reference-Cited by-同舟云学术

Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients

Published:2018-04-25 Issue:7 Volume:96 Page:e865-e873
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

García-García Gerardo Pedro¹^ORCID,Martínez-Rubio Magdalena¹,Moya-Moya Medina-Azahara¹,Pérez-Santonja Juan José¹,Escribano Julio²³^ORCID

Affiliation:

1. Department of Ophthalmology; University General Hospital of Alicante; Alicante Spain

2. Laboratory of Human Molecular Genetics; School of Medicine/Research Institute of Neurological Disabilities (IDINE); University of Castilla La-Mancha; Albacete Spain

3. Cooperative Research Network on Visual and Life Quality; Instituto de Salud Carlos III; Madrid Spain

Funder

Universidad de Castilla-La Mancha

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13768/fullpdf

Reference30 articles.

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4. In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy;Bozkurt;Cornea,2010

5. Nonsense - mediated mRNA decay (NMD) mechanisms;Brogna;Nat Struct Mol Biol,2009

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2. Bietti’s crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials;British Journal of Ophthalmology;2023-11-14

3. Corneal deposits and nerve alterations in Bietti Corneoretinal Crystalline Dystrophy imaged using in vivo confocal microscopy;Graefe's Archive for Clinical and Experimental Ophthalmology;2023-02-14

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