Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

In order to elucidate the molecular basis of phenylketonuria (PKU) in Portugal, a detailed study of the Portuguese mutant phenylalanine hydroxylase (PAH) genes was performed. A total of 222 mutant alleles from 111 PKU families were analysed for 26 mutations and restriction fragment length polymorphi...

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Hlavní autoři: Rivera, I, Leandro, P, Lichter-Konecki, U, Tavares de Almeida, I, Lechner, M C
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051278/
https://ncbi.nlm.nih.gov/pubmed/9598724
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