Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

ROBLD3

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.3669C>A CDS: c.*23C>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Bohn G et al., 2007