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11. A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. Landau D; Cohen D; Shalev H; Pinsk V; Yerushalmi B; Zeigler M; Birk OS Mol Genet Metab; 2004 Jun; 82(2):167-72. PubMed ID: 15172005 [TBL] [Abstract][Full Text] [Related]
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