rare HFE variants in combination with p.C282Y have been reported12 as well as the homozygous HFE deletion which is a common cause of HH in Sardinia.13 As discussed above, genetic defects in ferroportin (SLC40A1) are associated with ferroportin disease, an autosomal dominant disorder of iron ...
A Homozygous Deletion Mutation in the Gene Encoding the 180-kDa Bullous Pemphigoid Antigen (BPAG2) in a Family with Generalized Atrophic Benign Epidermolysis Bullosa The 180-kDa bullous pemphigoid antigen (BPAG2) is a candidate gene/protein for mutations in some forms of junctional epidermolysis ...