ICOS
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects 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