Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

The major cause of hyperphenylalaninemia is mutations in the gene encoding phenylalanine hydroxylase (PAH). The known mutations have been identified primarily in European patients. The purpose of this study was to determine the spectrum of mutations responsible for PAH deficiency in the United State...

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Detalhes bibliográficos
Main Authors: Guldberg, P., Levy, H. L., Hanley, W. B., Koch, R., Matalon, R., Rouse, B. M., Trefz, F., de la Cruz, F., Henriksen, K. F., Güttler, F.
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915123/
https://ncbi.nlm.nih.gov/pubmed/8659548
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