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

BACKGROUND: Elevated serum ferritin levels are frequently encountered in clinical situations and once iron overload or inflammation has been ruled out, many cases remain unexplained. Genetic causes of hyperferritinemia associated to early cataract include mutations in the iron responsive element in...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Kannengiesser, Caroline, Jouanolle, Anne-Marie, Hetet, Gilles, Mosser, Annick, Muzeau, Françoise, Henry, Dominique, Bardou-Jacquet, Edouard, Mornet, Martine, Brissot, Pierre, Deugnier, Yves, Grandchamp, Bernard, Beaumont, Carole
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Ferrata Storti Foundation 2009
Gaiak:
Disorders of Iron Metabolism
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2649359/
https://ncbi.nlm.nih.gov/pubmed/19176363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2008.000125
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