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Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community. This study obtained genotypes of 12 Plain individuals with PAH deficiency, iden...

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Podrobná bibliografie
Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Schwoerer, Jessica Scott, Drilias, Nicoletta, Kuhl, Ashley, Mochal, Sean, Baker, Mei
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5857495/
https://ncbi.nlm.nih.gov/pubmed/29560316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.02.005
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