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Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

Lysinuric protein intolerance (LPI) is a rare autosomal disease caused by defective cationic amino acid (CAA) transport due to mutations in SLC7A7, which encodes for the y(+)LAT1 transporter. LPI patients suffer from a wide variety of symptoms, which range from failure to thrive, hyperammonemia, and...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Bodoy, Susanna, Sotillo, Fernando, Espino-Guarch, Meritxell, Sperandeo, Maria Pia, Ormazabal, Aida, Zorzano, Antonio, Sebastio, Gianfranco, Artuch, Rafael, Palacín, Manuel
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6862226/
https://ncbi.nlm.nih.gov/pubmed/31653080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20215294
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