A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred-Reference-Cited by-同舟云学术

A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred

Published:2020-08-18 Issue:6 Volume:41 Page:556-562
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kandaswamy Dinesh Kumar¹²³^ORCID,Vasantha K.⁴,Graw Jochen²^ORCID,Santhiya Sathiyaveedu Thyagarajan¹

Affiliation:

1. Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Chennai, India

2. Institute of Developmental Genetics, Helmholtz Zentrum München, Neuherberg, Germany

3. School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK

4. Regional Institute of Ophthalmology (RIO), Government Eye Hospital, Chennai, India

Funder

German Academic Exchange Service New Delhi

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1807027

Reference27 articles.

1. WHO | Global data on visual impairment [Internet]. WHO. World health organization; [accessed 2020 May 21]. http://www.who.int/blindness/publications/globaldata/en/.

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3. Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis

4. Genetics of human cataract

5. Fast and accurate short read alignment with Burrows-Wheeler transform

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1. Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract;International Journal of Molecular Sciences;2023-11-22

2. Distinct gene expression profiles underlie morphological and etiological differences in pediatric cataracts;Indian Journal of Ophthalmology;2023-05

3. A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea;Ophthalmology Science;2022-03