A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein

The hyperornithinemia–hyperammonemia–homocitrullinuria syndrome is a rare autosomal recessive disorder caused by the functional deficiency of the mitochondrial ornithine transporter 1 (ORC1). ORC1 is encoded by the SLC25A15 gene and catalyzes the transport of cytosolic ornithine into mitochondria in...

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Detalles Bibliográficos
Autores principales: Ersoy Tunalı, Nagehan, Marobbio, Carlo M.T., Tiryakioğlu, N. Ozan, Punzi, Giuseppe, Saygılı, Seha K., Önal, Hasan, Palmieri, Ferdinando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015418/
https://www.ncbi.nlm.nih.gov/pubmed/24721342
http://dx.doi.org/10.1016/j.ymgme.2014.03.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015418/
https://www.ncbi.nlm.nih.gov/pubmed/24721342
http://dx.doi.org/10.1016/j.ymgme.2014.03.002

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