Article
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde - 1 Jan 2000
Pampukha V M, Drozhyna G I, Livshits L A
Abstract excerpt
In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine. The R555W mutation was detected in 6 patients from 4 families with granular corneal...
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