Table 3

Mutations identified in the families

FamilygDNAProtein
Ag.274367C>Gp.P30068R
B, C, D, E, F, Gg.274375T>Cp.C30071R
Ig.274426T>Cp.W30088R
Hg.274428G>Cp.W30088C
J, K, Lg.274436C>Tp.P30091L