Articles with "r124s mutation" as a keyword



Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene

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Published in 2019 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2019.1639202

Abstract: ABSTRACT Purpose: We report the clinical features and the mutational analysis in a large Tunisian family with granular corneal dystrophy type I (GCD1). Patients and Methods: Thirty-three members of the Tunisian family underwent a complete… read more here.

Keywords: corneal; r124s mutation; family; tunisian family ... See more keywords