Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

BACKGROUND: Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B(12) receptor complex, cubam. The cubam receptor proteins cubilin and amnionle...

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Bibliographische Detailangaben
Hauptverfasser: Storm, Tina, Zeitz, Christina, Cases, Olivier, Amsellem, Sabine, Verroust, Pierre J, Madsen, Mette, Benoist, Jean-François, Passemard, Sandrine, Lebon, Sophie, Jønsson, Iben Møller, Emma, Francesco, Koldsø, Heidi, Hertz, Jens Michael, Nielsen, Rikke, Christensen, Erik I, Kozyraki, Renata
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2013
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3826550/
https://ncbi.nlm.nih.gov/pubmed/24156255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-111
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