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...

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Detalles Bibliográficos
Autores principales: Carpentieri, David, Barnhart, Margaret F., Aleck, Kyrieckos, Miloh, Tamir, deMello, Daphne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
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

Internet

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

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