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Article

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

American journal of human genetics - 1 Jun 1997

Lauteala T, Sistonen P, Savontaus M L, Mykkänen J, Simell J, Lukkarinen M, Simell O, Aula P

Abstract excerpt

Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hyperammonemia. Linkage analysis in 20 Finnish LPI families assigned the LPI gene locus to the proximal long arm of chromosome 14. Recombinations placed the lo...

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Identifiers

PMID: 9199570
DOI: 10.1086/515457
PMCID: PMC1716131

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9199570-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.PMID 9199570Read ↗

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.Semantic proximity Read ↗

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.Semantic proximity Read ↗

Clinical and genetic features of lysinuric protein intolerance in Japan.Semantic proximity Read ↗

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.Semantic proximity Read ↗

Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).Semantic proximity Read ↗

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.Semantic proximity Read ↗

Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)Semantic proximity Read ↗

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.Semantic proximity Read ↗

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.Semantic proximity Read ↗

Lysinuric protein intolerance: one gene, many problems.Semantic proximity Read ↗

A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.Semantic proximity Read ↗

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.Semantic proximity Read ↗

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