Table 1 of
Xu, Mol Vis 2012; 18:3021-3028. Table 1 of
Xu, Mol Vis 2012; 18:3021-3028.
Table 1. Four PRPF31 mutations identified in a Chinese adRP cohort.
| Families | Exon | Nucleotide exchange | Protein effect | Information about penetrance |
|---|---|---|---|---|
| ADRP-HT | 3 | c.196_197delAA# | K66DfsX2 | segregates |
| ADRP-LG | 7 | c.544_618del75 bp# | E182_E206del | incomplete |
| ADRP-LLN | 7 | c.615delC# | p.Y205* | segregates |
| ADRP-XL | 9 | c.895T>C [7] | p.C299R | incomplete |