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Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

24 Oct 2013

Abstract excerpt

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 B12 receptor complex, cubam. The cubam receptor proteins cubilin and amnionless are both expressed in the small intestine as well as the proximal tubules of the kidney and exhibit an...

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PMID: 24156255
DOI: 10.1186/1471-2350-14-111

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