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142 Eighteen families with HK deficiency have been described to date, and gene changes have been characterized in only four patients.32,33,56,90,186 Three amino acid substitutions in HK are known to date to affect enzyme stability (p.Leu529Ser) 32,33 or the enzymes active site (p.Thr680Ser)

[DOI] [PMC free article] [PubMed] [Google Scholar] 51.Mischley L.K., Conley K.E., Shankland E.G., Kavanagh T.J., Rosenfeld M.E., Duda J.E., White C.C., Wilbur T.K., De La Torre P.U., Padowski J.M

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