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TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.
Lili Takács
1 ,
Gergely Losonczy ,
Klára Matesz ,
István Balogh ,
Zoltán Sohajda ,
Károly Tóth ,
Ferenc Fazakas ,
György Vereb ,
András Berta
Oct 18 2007
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Abstract
To identify mutations in the Transforming Growth Factor Beta Induced (TGFBI) gene in Hungarian patients with corneal dystrophy and to characterize histological features of their corneal buttons excised during penetrating keratoplasty.