Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50 % of the families repo...

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Detalles Bibliográficos
Autores principales: Jensen, Nina, Schrøder, Henrik Daa, Hejbøl, Eva Kildall, Füchtbauer, Ernst-Martin, de Oliveira, João Ricardo Mendes, Pedersen, Lene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824575/
https://www.ncbi.nlm.nih.gov/pubmed/23934451
http://dx.doi.org/10.1007/s12031-013-0085-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824575/
https://www.ncbi.nlm.nih.gov/pubmed/23934451
http://dx.doi.org/10.1007/s12031-013-0085-6

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