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Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

Human mutation - 1 Apr 2005

Sperandeo Maria Pia, Annunziata Patrizia, Ammendola Virginia, Fiorito Valentina, Pepe Antonio, Soldovieri Maria Virginia, Taglialatela Maurizio, Andria Generoso, Sebastio Gianfranco

Abstract excerpt

Lysinuric protein intolerance (LPI) is an inherited hyperdibasic aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney. LPI is relatively common in Finland and a few clusters of patients are known in Italy and Japan. The SLC7A7 gene, mutated in LPI patients, encodes the y+LAT-1 protein which is the light subunit of a...

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PMID: 15776427
DOI: 10.1002/humu.9323

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LAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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