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Article

Human LAT1 single nucleotide polymorphism N230K does not alter phenylalanine transport.

Molecular genetics and metabolism - 1 Dec 2004

Boado Ruben J, Li Jian Yi, Wise Petra, Pardridge William M

Abstract excerpt

The deleterious effects on the brain of phenylketonuria are caused by the saturation of the blood-brain barrier large neutral amino acid transporter type 1 (LAT1) by high plasma phenylalanine concentrations. There is only one known single nucleotide polymorphism (SNP) of the open reading frame of human LAT1, N230K. Site-directed mutagenesis of the wild type human LAT1 cDNA replicated the N230K SNP, and the...

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PMID: 15589117
DOI: 10.1016/j.ymgme.2004.07.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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