Table 2 of
Li, Mol Vis 2008; 14:733-738. Table 2 of
Li, Mol Vis 2008; 14:733-738.
Table 2. Mutations in seven families and the significant LOD score in four families.
| Family | Location | Mutation | Protein | Type of mutation | Zmax at DXS1047 |
| A | exon 9 | c. 812G>T | p.C271F | missense | 8.55 |
| B | exon 8 | 689–690delAG | p.S232Ffs2 | deletion | 3.61 |
| C | 2.42 | ||||
| D | exon 2 | c. 70G>T | p.G24W | missense | 1.57 |
| E | exon 9 | c. 782G>A | p.R260Q | missense | |
| F | exon 9 | c. 782G>A | p.R260Q | missense | |
| G | exon 10 | c. 910C>T | p.R303X | nonsense |