A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
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Serum ferritin: Past, present and futureCharacterization of Anopheles gambiae (African Malaria Mosquito) Ferritin and the Effect of Iron on Intracellular Localization in Mosquito Cells.Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.Mammalian iron metabolism and its control by iron regulatory proteinsHuman L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunitiesBiology of ferritin in mammals: an update on iron storage, oxidative damage and neurodegeneration.Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.Congenital Hyperferritinemia Diagnosed in A 2 Month Old-A Case Report from India.Decoupling ferritin synthesis from free cytosolic iron results in ferritin secretion.Towards explaining "unexplained hyperferritinemia".Ferroportin disease: pathogenesis, diagnosis and treatment.Unexplained isolated hyperferritinemia without iron overload.Serum ferritin is an important inflammatory disease marker, as it is mainly a leakage product from damaged cellsScreen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels
P2860
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P2860
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 27 January 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A new missense mutation in the ...... and absence of iron overload.
@en
A new missense mutation in the ...... and absence of iron overload.
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type
label
A new missense mutation in the ...... and absence of iron overload.
@en
A new missense mutation in the ...... and absence of iron overload.
@nl
prefLabel
A new missense mutation in the ...... and absence of iron overload.
@en
A new missense mutation in the ...... and absence of iron overload.
@nl
P2093
P2860
P1433
P1476
A new missense mutation in the ...... m and absence of iron overload
@en
P2093
Anne-Marie Jouanolle
Annick Mosser
Bernard Grandchamp
Carole Beaumont
Caroline Kannengiesser
Dominique Henry
Françoise Muzeau
Gilles Hetet
Martine Mornet
Pierre Brissot
P2860
P304
P356
10.3324/HAEMATOL.2008.000125
P577
2009-01-27T00:00:00Z