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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915123/
https://ncbi.nlm.nih.gov/pubmed/8659548
Tagiau: Ychwanegu Tag
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