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L. L. Santos, Fonseca, C. G., Starling, A. L. P., Januário, J. N., Aguiar, M. J. B., Peixoto, M. G. C. D., and Carvalho, M. R. S., Variations in genotype-phenotype correlations in phenylketonuria patients, vol. 9, pp. 1-8, 2010.
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Co-expression of different subunits of human phenyl-alanine hydroxylase: evidence of negative interallelic complementation. Biochim. Biophys. Acta 1762: 544-550. PMid:16545551   Mallolas J, Mila M, Lambruschini N, Cambra FJ, et al. (1999). Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes. Mol. Genet. Metab. 67: 156-161. PMid:10356315   O'Flynn ME, Holtzman NA, Blaskovics M, Azen C, et al. (1980). The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria. Am. J. Dis. Child 134: 769-774. PMid:7405915   Pey AL, Desviat LR, Gamez A, Ugarte M, et al. (2003). Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum. Mutat. 21: 370-378. PMid:12655546   Rivera I, Cabral A, Almeida M, Leandro P, et al. (2000). The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients. Mol. Genet. 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