Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

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

(2012) V. Thurlow et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Hyperferritinaemia; laboratory implications

(2012) M. A. Crook   ANNALS OF CLINICAL BIOCHEMISTRY

The hereditary hyperferritinemia–cataract syndrome: a family study

(2010) Javier Álvarez-Coca-González et al.   EUROPEAN JOURNAL OF PEDIATRICS

SIREs: searching for iron-responsive elements

(2010) M. Campillos et al.   NUCLEIC ACIDS RESEARCH

A case report of spontaneous mutation (C33>U) in the iron-responsive element of l-ferritin causing hyperferritinemia-cataract syndrome

(2009) Wei Cao et al.   BLOOD CELLS MOLECULES AND DISEASES

Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region

(2009) Maria Concetta Faniello et al.   CLINICAL BIOCHEMISTRY

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload

(2009) C. Kannengiesser et al.   HAEMATOLOGICA

Ferritins: A family of molecules for iron storage, antioxidation and more

(2008) Paolo Arosio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS