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Hereditary Hyperferritinemia Caratact Syndrom due to a point mutation at position 32 in the IRE (iron responsive element) of the ferritin light chain- the first family in Germany
DOI 10.1055/s-0029-1191983
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Autor:innenG Millonig, MP Holzer, HK Seitz, M Muckenthaler, S Mueller
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe01/2009
Jahrgang / SeitenNicht angegeben
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Abstract-Vorschau
Aims: High serum ferritin levels are usually suggestive for iron overload or systemic inflammation but could be also due to the hereditary hyperferritinemia cataract syndrome (HHCS), a rare condition with elevated ferritin light chain production and premature cataract. HHCS is caused by mutations within the iron responsive element (IRE) of the L-ferritin mRNA (FTL gene, MIM# 134790) which disrupts binding of the iro…
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Zitierempfehlung
G Millonig, MP Holzer, HK Seitz, M Muckenthaler, S Mueller (2009) Hereditary Hyperferritinemia Caratact Syndrom due to a point mutation at position 32 in the IRE (iron responsive element) of the ferritin light chain- the first family in Germany. Zeitschrift für Gastroenterologie (01). https://doi.org/10.1055/s-0029-1191983
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