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R Biancheri, E Verbeek, A Rossi, R Gaggero, L Roccatagliata, R Gatti, Op Van Diggelen, FW Verheijen and GMS Mancini An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease Clinical Genetics 61

Article first published online: 11 JUL 2002 | DOI: 10.1034/j.1399-0004.2002.610608.x

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