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The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

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Resumo(s)

To understand the basis for the clinical heterogeneity of phenylalanine hydroxylase deficiency among Portuguese hyperphenylalaninemic patients, genotype-phenotype correlations were established. A group of 61 patients was completely genotyped, leading to t

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Biochemistry & Molecular Biology Genetics & Heredity Medicine, Research & Experimental

Contexto Educativo

Citação

MOLECULAR GENETICS AND METABOLISM. - Vol. 69, n. 3 (MAR 2000), p. 195-203

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Editora

ACADEMIC PRESS INC

Licença CC