HH is classified into 4 different categories according to the gene causing the disease. Type1 is the most common form arising from homozygosity for HFE C282Y mutation at the homozygous state. Type2 HH includes type 2A caused by mutations in HJV and type 2B , caused by mutations in HAMP. ...
Results demonstrated that the c.279 + 1G > C mutation caused a deletion of exon 3 from the SLC12A5 mRNA, resulting in an in-frame 44-amino acid deletion (p.E50_Q93del) (Fig. 1C,D). All six mutations were located on both KCC2a and KCC2b (Fig. 1B,E), and ...