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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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Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. Eur. J. Hum. Genet. 8: 683-696. PMid:10980574   Kasnauskiene J, Cimbalistiene L and Kucinskas V (2003). Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. Med. Sci. Monit. 9: CR142-CR146. PMid:12640344   Kayaalp E, Treacy E, Waters PJ, Byck S, et al. (1997). Human phenylalanine hydroxylase mutations and hyperphenylal-aninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am. J. Hum. Genet. 61: 1309-1317. PMid:9399896 PMCid:1716084   Kim SW, Jung J, Oh HJ, Kim J, et al. (2006). Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene. Clin. Chim. Acta 365: 279-287. PMid:16253218   Leandro J, Nascimento C, de Almeida IT and Leandro P (2006). 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. Metab. 69: 195-203. PMid:10767174   Santos LL, Magalhaes MC, Reis AO, Starling AL, et al. (2006). Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil. Genet. Mol. Res. 5: 16-23. PMid:16755493   Santos LL, Castro-Magalhaes M, Fonseca CG, Starling AL, et al. (2008). PKU in Minas Gerais State, Brazil: mutation analysis. Ann. Hum. Genet. 72: 774-779. PMid:18798839   SAS Institute (2003). SAS/STAT® Software: Changes and Enhacements through Release 9.1. SAS Institute, Cary.   Scriver CR (2002). Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J. Pediatr. 140: 502-506. PMid:12032513   Scriver CR (2007). The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 28: 831-845. PMid:17443661   Scriver CR and Waters PJ (1999). Monogenic traits are not simple: lessons from phenylketonuria. 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