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The molecular bases of cystinuria and lysinuric protein intolerance

✍ Scribed by Manuel Palacı́n; Giuseppe Borsani; Gianfranco Sebastio


Book ID
117654775
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
118 KB
Volume
11
Category
Article
ISSN
0959-437X

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Lysinuric protein intolerance: update an
✍ Maria Pia Sperandeo; Generoso Andria; Gianfranco Sebastio 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB

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