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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab Rep
Egile Nagusiak: Bik-Multanowski, Miroslaw, Bik-Multanowska, Kinga, Betka, Iwona, Madetko-Talowska, Anna
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2021
Gaiak:
Sarrera elektronikoa: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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