Analysis of LPI-causing mutations on y+LAT1 function and localization
Analysis of LPI-causing mutations on y+LAT1 function and localization
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
y+LAT1, encoded by SCL7A7, is the protein mutated in Lysinuric Protein Intolerance (LPI), a rare metabolic disease caused by a defective cationic amino acid (CAA, arginine, lysine, ornithine) transport at the basolateral membrane of intestinal and renal tubular cells. The disease is characterized by protein-rich food intolerance with secondary urea...
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Full title
Analysis of LPI-causing mutations on y+LAT1 function and localization
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TN_cdi_doaj_primary_oai_doaj_org_article_8b66f7d2ae9d47b4b6f8dabfc61e56c3
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8b66f7d2ae9d47b4b6f8dabfc61e56c3
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-019-1028-2
