A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant

被引：2

作者：

Orimo, Kenta ^{[1
]}

Kakumoto, Toshiyuki ^{[1
,6
]}

Hara, Ryo ^{[1
]}

Goto, Ryoji ^{[1
]}

Ishiura, Hiroyuki ^{[1
]}

Mitsui, Jun ^{[1
,2
]}

Yoshida, Chiharu ^{[3
]}

Uesaka, Yoshikazu ^{[3
]}

Suzuki, Yuta ^{[4
]}

Morishita, Shinichi ^{[4
]}

Satake, Wataru ^{[1
]}

Tsuji, Shoji ^{[1
,5
]}

Toda, Tatsushi ^{[1
]}

机构：

[1] Univ Tokyo, Grad Sch Med, Dept Neurol, Tokyo, Japan

[2] Univ Tokyo, Grad Sch Med, Dept Mol Neurol, Tokyo, Japan

[3] Toranomon Gen Hosp, Dept Neurol, Tokyo, Japan

[4] Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, Chiba, Japan

[5] Int Univ Hlth & Welf, Inst Med Genom, Narita, Chiba, Japan

[6] Univ Tokyo, Grad Sch Med, Dept Neurol, 7-3-1 Hongo,Bunkyo Ku, Tokyo 1138655, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2023年 / 451卷

关键词：

Primary familial brain calcification; PFBC; XPR1; Idiopathic basal ganglia calcification; IBGC; Fahr's disease; MUTATIONS;

D O I：

10.1016/j.jns.2023.120732

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：3

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