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MeSH:(beta-Crystallin B Chain)

1.Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract.

Chengxia MA ; Guangying ZHENG ; Lili HAO

Chinese Journal of Medical Genetics 2018;35(2):165-168

2.A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract.

Jun WANG ; Xu MA ; Feng GU ; Ning-pu LIU ; Xiao-lin HAO ; Kai-jie WANG ; Ning-li WANG ; Si-quan ZHU

Chinese Medical Journal 2007;120(9):820-824

3.Mutation analysis of CRYBB1 gene and prenatal diagnosis for a Chinese kindred featuring autosomal dominant congenital nuclear cataract.

Qinghua WU ; Huirong SHI ; Ning LIU ; Ning LU ; Miao JIANG ; Zhenhua ZHAO ; Xiangdong KONG

Chinese Journal of Medical Genetics 2013;30(3):266-269

4.Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain.

Liang-Bo QI ; Li-Dan HU ; Huihui LIU ; Hai-Yun LI ; Xiao-Yao LENG ; Yong-Bin YAN

Protein & Cell 2016;7(7):501-515

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