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