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Science 217 : 12631265 Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C 1998 A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

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To understand how the MTHFR gene mutation affects glutathione, we first need to understand one-carbon metabolism