Articles with "ser591phe mutation" as a keyword



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Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy

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Published in 2022 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2022.2050766

Abstract: ABSTRACT Purpose To provide the initial confirmation of the c.1772C>T (p.Ser591Phe) mutation in the transforming growth factor- -induced (TGFBI) gene as being associated with variant lattice corneal dystrophy (LCD). Methods Ophthalmologic examination of the proband… read more here.

Keywords: ser591phe mutation; variant lattice; lattice corneal; mutation ... See more keywords