Article
Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene.
Ophthalmology - 1 Jul 2000
Dighiero P, Valleix S, D'Hermies F, Drunat S, Ellies P, Savoldelli M, Pouliquen Y, Delpech M, Legeais J M, Renard G
Abstract excerpt
OBJECTIVE: This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene. DESIGN: Retrospective clinical and histologic review of a new genetic mutation. PARTICIPANTS: Thirty-four patients from five unrelated French families with corneal dystrophy caused by the R124L mutation of the BIGH3 gene were studied...
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