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D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.

Cell biochemistry and biophysics - 1 Dec 2023

Wang Han, Ouyang Gaoxiang, Zhu Ying

Abstract excerpt

Beaded filament structural protein 1 (BFSP1) gene plays important role in the development of congenital cataract. We aimed to investigate and analyze the molecular mechanism of congenital cataract caused by D348N mutation of BFSP1 gene, and to provide evidence for the intervention of congenital cataract. BFSP1 and CP49 genes were cloned, wild type and mutant expression plasmids of BFSP1 were constructed and...

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PMID: 37667037
DOI: 10.1007/s12013-023-01169-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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