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Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 located on the chromosome 14q11.2. LPI is most prevalent in Finland (1:50,000), Northern Japan (1:60,000) and Italy. Cases have also been reported in Spain and the United States. Here we repo...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471162/ https://www.ncbi.nlm.nih.gov/pubmed/28649527 http://dx.doi.org/10.1016/j.ymgmr.2014.12.005 |