Article
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
Molecular genetics and metabolism - 1 Mar 2000
Rivera I, Cabral A, Almeida M, Leandro P, Carmona C, Eusébio F, Tasso T, Vilarinho L, Martins E, Lechner M C, de Almeida I T, Konecki D S, Lichter-Konecki U
Abstract excerpt
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 the identification of 20 different mutant alleles in 36 different genotypic combinations, including a mutant allele not reported previously. The severity of those...
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