Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy

Figure 5

Results of the sequencing of exon 4 of the TGFBI gene: (a) the heterozygous G > T base substitution in family 1 resulted in a heterozygous p.R124L mutation (CGC > CTC); (b) the heterozygous C > T base substitution in family 2 resulted in a heterozygous p.R124C mutation (CGC > TGC); (c) the heterozygous G > A base substitution in family 3 resulted in a heterozygous p.R124H mutation (CGC > CAC); (d) the sequence of exon 4 in normal individuals.

(a)

(b)

(c)

(d)