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Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification

Idiopathic basal ganglia calcification (IBGC) is a rare intractable disease characterized by abnormal mineral deposits, including mostly calcium in the basal ganglia, thalamus, and cerebellum. SLC20A2 is encoding the phosphate transporter PiT-2 and was identified in 2012 as the causative gene of fam...

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Detalles Bibliográficos
Autores principales: Nishii, Kazuya, Shimogawa, Ritsuko, Kurita, Hisaka, Inden, Masatoshi, Kobayashi, Michio, Toyoshima, Itaru, Taguchi, Yoshiharu, Ueda, Akihiro, Tamune, Hidetaka, Hozumi, Isao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872723/
https://www.ncbi.nlm.nih.gov/pubmed/31754123
http://dx.doi.org/10.1038/s41598-019-53401-0