Associated Papers
Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma.
Li W et al.
American Journal of Translational Research, 2025
Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.
Abrol K et al.
The Protein Journal, 2024
Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.
Budnar P et al.
Biochemistry. Biokhimiia, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
35281256 (PubMed )
Supplement: DataSheet1.docx
Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts.
Chen D et al.
Experimental and Therapeutic Medicine, 2021
Crystalline gene mutations in Turkish children with congenital cataracts.
Karahan M et al.
International Ophthalmology, 2021
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov AV et al.
Orphanet Journal of Rare Diseases, 2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
32148946 (PubMed )
Supplement: 7054315.f1.pdf
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.
Song Z et al.
Bmc Medical Genetics, 2018
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