Table 1 of
Vincent, Mol Vis 2006;
12:506-510.Table 1 of
Vincent, Mol Vis 2006;
12:506-510.
Table 1. CYP1B1 sequence changes in Peters anomaly
Details of mutational analysis of CYP1B1 in patients affected with Peters anomaly (n=15). The asterisk indicates that the mutation has been previously reported [5]. In the "Leu432Val" column, the changed base is marked in red.
Control
Predicted individuals
Mutation(s) amino acid with a Leu432Val
Case identified change mutation Phenotype CTG>GTG
---- ----------- ---------- ----------- ----------------- ---------
1 7940G>A Arg368His 1/140 Bilateral Peters C/G
anomaly and
juvenile glaucoma
2 4157C>A Pro118Thr 0/100 Bilateral Peters C/G
anomaly and no
glaucoma
(age 9 years)
3* 3807T>C Met1Thr 0/100 Bilateral Peters C/C
anomaly and
3976G>A Trp57Stop 0/100 congenital
glaucoma
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