Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene

M.M.C. Wamelink, E.A. Struijs, E.E.W. Jansen, E.N. Levtchenko, F.S.M. Zijlstra, U. Engelke, H.J. Blom, C.A.J.M. Jakobs, R.A. Wevers

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)532-536
JournalHuman Mutation
Issue number4
Publication statusPublished - 2008

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