Table 1.

Pseudoxanthoma elasticum nonsense mutations given in order of decreasing full-length protein expression level induced by incubation with 5 μg/mL ataluren.

Mutation	mRNA Nucleotide Sequence	Mutation Frequency (%)
R1275X	UGA-C	<1
R1164X	UGA-C	10
R1141X	UGA-A	54
Q378X	UAG-A	<1
Q1143X	UAG-G	<1
R518X	UGA-G	1.2
R1398X	UGA-G	1.2