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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826550/ https://www.ncbi.nlm.nih.gov/pubmed/24156255 http://dx.doi.org/10.1186/1471-2350-14-111

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