A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family-Reference-Cited by-同舟云学术

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A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family

Published:2023-07-12 Issue:5 Volume:298 Page:1237-1244
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Kong Yanbo,Yi Haoan,Li Fan,Duan Xiu,Yang Lipu,Fan Xinyu,Wu Guojiu,Ma Minjun,Zha Xu,He Yongshu^ORCID

Funder

The scientific research fund project of the Yunnan Education Department

Applied Basic Research Foundation of Yunnan Province

The Science and Technology Program of the 2nd affiliated Hospital of Kunming Medical University

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00438-023-02052-y.pdf

Reference27 articles.

1. Althaus K, Greinacher A (2009) MYH9-related platelet disorders. Semin Thromb Hemost 35:189–203

2. Berry V, Fujinami K, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M (2022) A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genet 1–5:622–626

3. Bloemendal H, de Jong W, Jaenicke R, Lubsen NH, Slingsby C, Tardieu A (2004) Ageing and vision: structure, stability and function of lens crystallins. Prog Biophys Mol Biol 86:407–485

4. Das GK, Boriwal K, Chhabra P, Sahu PK, Kumar S, Kumar N (2019) Presenile cataract and its risk factors: a case control study. J Family Med Prim Care 8:2120–2123

5. Guex N, Peitsch MC (1997) SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 18:2714–2723

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 novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract;Gene;2024-11

2. Autosomal Recessive Congenital Cataract is Associated with a Novel Base Substitution Mutation of the Cryba2 Gene;2024

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