Analysis of R124C mutation by polymerase chain reaction-restriction fragment length polymorphism

All affected individuals carry the same mutation in exon 4 of the gene. Exon 4 was amplified from each family member and digested with PstI. The products were analyzed by a 4% agarose gel electrophoresis along with a standard marker (MW) as indicated.

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Taken from "Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the () gene"

Molecular Vision 2008;14():829-835.

Published online 07 May 2008

PMCID:PMC2373796.