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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: Schwoerer, Jessica Scott, Drilias, Nicoletta, Kuhl, Ashley, Mochal, Sean, Baker, Mei
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2018
Aiheet:
Linkit: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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