Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of cationic amino acid transport caused by mutations in the SLC7A7 gene. We report the genomic structure of the gene and the results of the mutational analysis in Italian, Tunisian, and Japanese patients. The SLC7A7 gene consis...

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Библиографические подробности
Главные авторы: Sperandeo, Maria Pia, Bassi, Maria Teresa, Riboni, Mirko, Parenti, Giancarlo, Buoninconti, Anna, Manzoni, Marta, Incerti, Barbara, Larocca, Maria Rosaria, Di Rocco, Maja, Strisciuglio, Pietro, Dianzani, Irma, Parini, Rossella, Candito, Miranda, Endo, Fumio, Ballabio, Andrea, Andria, Generoso, Sebastio, Gianfranco, Borsani, Giuseppe
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2000
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Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288352/
https://ncbi.nlm.nih.gov/pubmed/10631139
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