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Article

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

Scientific reports - 21 Nov 2019

Nishii Kazuya, Shimogawa Ritsuko, Kurita Hisaka, Inden Masatoshi, Kobayashi Michio, Toyoshima Itaru, Taguchi Yoshiharu, Ueda Akihiro, Tamune Hidetaka, Hozumi Isao

Abstract excerpt

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 familial IBGC. In this study, we investigated functionally two novel SLC20A2 variants (c.680C > T, c.1487G > A) and two...

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Identifiers

PMID: 31754123
DOI: 10.1038/s41598-019-53401-0
PMCID: PMC6872723

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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