A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer-Reference-Cited by-同舟云学术

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A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer

Published:2011-01-25 Issue:3 Volume:32 Page:E2050-E2060
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wang Kai Jie,Wang Sha,Cao Ni-Qian,Yan Yong-Bin,Zhu Si Quan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21436/fullpdf

Cited by 43 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. Identification of 4 Novel Variants in 19 Families with Congenital Cataracts;2024-03-21

2. Developmental Anomalies of the Cornea and Iris in Neonates;Principles of Neonatology;2024

3. Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization;Journal of Biological Chemistry;2023-08

4. Cataract-causing variant Q70P damages structural stability of βB1-crystallin and increases its tendency to form insoluble aggregates;International Journal of Biological Macromolecules;2023-07

5. A cataract-causing Y204X mutation of CRYßB1 promotes C-terminal degradation and higher-order oligomerization;2023-02-25

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