A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

Published:2004-01-01 Issue:2 Volume:114 Page:192-197
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Qi Yanhua,Jia Hongyan,Huang Shangzhi,Lin Hui,Gu Jingzhi,Su Hong,Zhang Tieying,Gao Ya,Qu Lijun,Li Dandan,Li Ying

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-003-1049-7.pdf

Cited by 52 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. Dysregulation of Autophagy Occurs During Congenital Cataract Development in βA3ΔG91 Mice;Investigative Opthalmology & Visual Science;2024-04-01

2. Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga–Ural Region;Current Issues in Molecular Biology;2023-06-15

3. Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies;International Journal of Biological Macromolecules;2021-10

4. Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability;British Journal of Ophthalmology;2021-09-06

5. A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities;European Journal of Ophthalmology;2021-04-07

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP