Table 3 of
Gao, Mol Vis 2007;
Table 3. Sequence variants in five genes of six patients with the heterozygous SP4 Asn306Ser mutation
The probands of three families (485, 1526, and 2177) had an intronic sequence variant in GNB1 in addition to SP4 Asn306Ser. These sequence variants segregated with disease in families 485 and 1526. We were unable to obtain the DNA of members of family 2177. The sequence variant in intron 18 of PDE6A did not segregate with disease in families 485 and 1526.