Associated Papers
Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.
Saba N et al.
Molecular Biology Reports, 2026
D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.
Wang H et al.
Cell Biochemistry and Biophysics, 2023
Effects of truncations in the N- and C-terminal domains of filensin on filament formation with phakinin in cell-free conditions and cultured cells.
Tashiro M et al.
Febs Open Bio, 2023
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.
Zhai Y et al.
Scientific Reports, 2017
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
Wang H et al.
Molecular Vision, 2013
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