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Article

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Feb 2011

Sebastio Gianfranco, Sperandeo Maria P, Andria Generoso

Abstract excerpt

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y(+)LAT-1 protein, the catalytic light chai...

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Identifiers

PMID: 21308987
DOI: 10.1002/ajmg.c.30287

Genes

LAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21308987-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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