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...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Bik-Multanowski, Miroslaw, Bik-Multanowska, Kinga, Betka, Iwona, Madetko-Talowska, Anna
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2021
Fag:
Short Communication
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8040326/
https://ncbi.nlm.nih.gov/pubmed/33868932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100751
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