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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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Detalles Bibliográficos
Autores principales:	Schwoerer, Jessica Scott, Drilias, Nicoletta, Kuhl, Ashley, Mochal, Sean, Baker, Mei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857495/ https://www.ncbi.nlm.nih.gov/pubmed/29560316 http://dx.doi.org/10.1016/j.ymgmr.2018.02.005

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