TABLE III.
Family | Mutation | Protein alteration | Report |
---|---|---|---|
Norwegian | c.764_769delAAAGTG | p.E255_S256del | Gilfillan et al. [2008] |
Swedish | C.1402C>T | p.R468X | Gilfillan et al. [2008] |
British | c.507+1delGTAA | p.V144_R1G9del | Gilfillan et al. [2008] |
Afrikaner | c.512_513delAT | p.H171fs | Christianson et al. [1999]; Gilfillan et al. [2008] |
K8310 | C.1402C>T | p.R468X | This report |
K9524 | C.1219C>T | p.Q407X | This report |