Table 1 of
Benaglio, Mol Vis 2014; 20:843-851. Table 1 of
Benaglio, Mol Vis 2014; 20:843-851.
Table 1. Genes analyzed in this study and methods.
| Symbol | Protein | snRNP complex | # exons | Screening method | # screened patients |
|---|---|---|---|---|---|
| EFTUD2 | Elongation factor Tu GTP binding domain containing 2- 116 kDa | U5 [13] | 28 | Nextera-NGS | 200 |
| PRPF4 | PRP4 pre-mRNA processing factor 4 homolog – 60 kDa | U4/U6 [17] | 14 | Nextera-NGS | 200 |
| NHP2L1 | NHP2 non-histone chromosome protein 2-like 1- 15.5 kDa | U4/U6.U5 [16] | 4 | Sanger | 303 |
| AAR2 | AAR2 splicing factor homolog | U5 [15] | 4 | Sanger | 187 |