CareLit · DOI-Nachweis · Zeitschrift für Gastroenterologie
Functional and clinical implications of ferroportin mutation p.Arg178Gln
DOI 10.1055/s-0035-1551773
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Autor:innenA Viveiros, B Schaefer, D Haschka, G Ravasi, A Finkenstedt, K Nachbaur, B Henninger, W Vogel, H Zoller
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe05/2015
Jahrgang / SeitenNicht angegeben
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Abstract-Vorschau
Ferroportin disease is an autosomal dominant iron storage condition with different phenotypic expression, where a clear genotype to phenotype correlation has been reported for selected mutations. Ferroportin disease is primarily caused by private mutations in the gene SLC40A1, which encodes an iron export protein. Genetic defects can cause a loss of iron export function which is typically associated with low transfe…
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Zitierempfehlung
A Viveiros, B Schaefer, D Haschka, G Ravasi, A Finkenstedt, K Nachbaur, B Henninger, W Vogel, H Zoller (2015) Functional and clinical implications of ferroportin mutation p.Arg178Gln. Zeitschrift für Gastroenterologie (05). https://doi.org/10.1055/s-0035-1551773
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