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report of three cases

PKU is caused predominantly by pathogenetic mutations in the PAH gene, and more than 1,000 such variants have been identified [184]

Xu, Q., Kleindienst, R., Waitz, W., Dietrich, H

Also, inside the central cavity, mutations Y26A/F/Q and G27L/Q/W in TM1, G138I/V (but not G138A), G142A/I/V, G145A/I/V and E151A/Q in the signature motif all resulted in inactive enzymes