Associated Papers
In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract.
Wang Z et al.
Plos One, 2020
Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families.
Wang Z et al.
Experimental and Therapeutic Medicine, 2019
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.
Siggs OM et al.
European Journal of Human Genetics : Ejhg, 2017
Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.
Vanita V et al.
Molecular and Cellular Biochemistry, 2014
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
Billingsley G et al.
American Journal of Human Genetics, 2006
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
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