From: Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Mutation | Albumin | Transferrin | VDBP | Apo A-I | α1-M | RBP |
---|---|---|---|---|---|---|
AMN | ||||||
c.208-2A>G/c.208-2A>G A | x | x | x | No + x | x | No |
(p.Leu70Alafs) | ||||||
c.1006 + 11_1008del/c.1006 + 11_1008del | x | x | x | x | x | No |
(p.Glu337Asnfs) | ||||||
c.1041_1042delinsCTC/c.208-2A>G A | x | x | x | x | x | No |
(p.Glu348Serfs/p.Leu70Alafs) | ||||||
CUBN | ||||||
c.3335G>A/c.3335G>A | x | x | x | x | x | No |
(p.Gly1112Glu) | ||||||
c.3890C>T/c.3890C>T B | (x) | (x) | (x) | (x) | (x) | No |
(p.Pro1297Leu) |