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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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| Vydáno v: | Mol Genet Metab Rep |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2018
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| 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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