SI.No | Mutation change | Expt Name | PubMed | ||
1 | Deletion | Genomic: g.18285_20098del1815 CDS: c.59-604_501+80del1815 AnimoAcid: p.Gly20GlufsX10 |
Deletion | Direct sequencing, PCR based assay |
Grimbacher B et al., 2003 |
2 | Deletion | Genomic: g.18285_20098del1815 CDS: c.59-604_501+80del1815 AnimoAcid: p.Gly20GlufsX10 |
Deletion | Fluorescent sequencing, PCR based assay |
Salzer U et al., 2004 |