Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Phenylketonuria (PKU) and benign hyperphenylalaninaemia (HPA) result from a variety of mutations in the gene for the hepatic enzyme phenylalanine hydroxylase. PKU has been found in the Israeli population in two variants, classical and atypical. The two are clinically indistinguishable and require tr...

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Detalhes bibliográficos
Main Authors: Kleiman, S, Vanagaite, L, Bernstein, J, Schwartz, G, Brand, N, Elitzur, A, Woo, S L, Shiloh, Y
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016333/
https://ncbi.nlm.nih.gov/pubmed/8487271
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