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doi: 10.1007/s00535-016-1242-9 52 LouisPYoungPHoltropGFlintHJ
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184,185,203 It is important to note that because most PK-deficient patients are compound heterozygous for two different (missense) mutations, up to seven different tetrameric forms of PK may be present in such patients, each with distinct structural and kinetic properties
