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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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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2009
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| Assuntos: | |
| Acesso em linha: | 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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