Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

Lysinuric protein intolerance (LPI) is a rare autosomal inherited disease caused by defective cationic aminoacid transport 4F2hc/y(+)LAT-1 at the basolateral membrane of epithelial cells in the intestine and kidney. LPI is a multisystemic disease with a variety of clinical symptoms such as hepatospl...

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Bibliografiset tiedot
Päätekijät: Font-Llitjós, Mariona, Rodríguez-Santiago, Benjamín, Espino, Meritxell, Sillué, Ruth, Mañas, Sandra, Gómez, Laia, Pérez-Jurado, Luis A, Palacín, Manuel, Nunes, Virginia
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2009
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985956/
https://ncbi.nlm.nih.gov/pubmed/18716612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.145
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