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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Kleiman, S, Vanagaite, L, Bernstein, J, Schwartz, G, Brand, N, Elitzur, A, Woo, S L, Shiloh, Y
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1993
Soggetti:
Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016333/
https://ncbi.nlm.nih.gov/pubmed/8487271
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi