Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.

Thurlow, Vanessa

Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay. [electronic resource] - Annals of clinical biochemistry May 2012 - 302-5 p. digital

Publication Type: Case Reports; Journal Article

1758-1001

10.1258/acb.2011.011229 doi


Aged
Amino Acid Sequence
Apoferritins--blood
Ferritins--blood
Glycosylation
Humans
Iron Metabolism Disorders--blood
Male
Middle Aged
Models, Molecular
Molecular Sequence Data
Mutation, Missense
Open Reading Frames
Sequence Analysis, DNA