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BFSP2
Sunday 20 March 2005
The beaded filament is a cytoskeletal structure which is abundant in the fiber cells of the ocular lens.
Phakinin (BFSP2) and filensin (BFSP1) (MIM.603307) are major components of the beaded filament.
Pathology
germline mutations of BFSP2 in
- autosomal dominant congenital cataract (MIM.604219)
- autosomal dominant juvenile-onset cataract (MIM.604219)
See also
beaded filament
- phakinin (BFSP2)
- filensin (BFSP1) (MIM.603307)
cataracts