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The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
Functional alteration of the LAT1 amino acid transporter may be responsible for interindividual differences in cerebral phenylalanine content and the lack of intellectual disability in some patients with untreated phenylketonuria. We assessed the effect of the common variant rs113883650 of the SLC7A...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040326/ https://www.ncbi.nlm.nih.gov/pubmed/33868932 http://dx.doi.org/10.1016/j.ymgmr.2021.100751 |