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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...

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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1996
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915123/
https://ncbi.nlm.nih.gov/pubmed/8659548
Etiketler: Etiketle
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