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Waters, P.J., Parniak, M.A., Akerman, B.R. et al. Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria. J Inherit Metab Dis 22, 208–212 (1999). https://doi.org/10.1023/A:1005533825980
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DOI: https://doi.org/10.1023/A:1005533825980