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A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload
Haematologica, 03/09/09
Kannengiesser C et al. - The missense mutation of FTL represents a new cause of genetic hyperferritinemia without iron overload. The authors hypothesized that the mutation increases the efficacy of L ferritin secretion by increasing the hydrophobicity of the N terminal "A" alpha helix.
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