Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
About this item
Full title
Author / Creator
Wang, Cheng , Li, Yulei , Shi, Lei , Ren, Jie , Patti, Monica , Wang, Tao , de Oliveira, João R M , Sobrido, María-Jesús , Quintáns, Beatriz , Baquero, Miguel , Cui, Xiaoniu , Zhang, Xiang-Yang , Wang, Lianqing , Xu, Haibo , Wang, Junhan , Yao, Jing , Dai, Xiaohua , Liu, Juan , Zhang, Lu , Ma, Hongying , Gao, Yong , Ma, Xixiang , Feng, Shenglei , Liu, Mugen , Wang, Qing K , Forster, Ian C , Zhang, Xue and Liu, Jing-Yu
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Xue Zhang, Jing Yu Liu and colleagues report
SLC20A2
mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr disease). These mutations impair the function of the type III phosphate transporter encoded by
SLA20A2
and may disturb phosphate homeostasis in the body.
Familial idiopathic basal ganglia calcifi...
Alternative Titles
Full title
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Authors, Artists and Contributors
Author / Creator
Li, Yulei
Shi, Lei
Ren, Jie
Patti, Monica
Wang, Tao
de Oliveira, João R M
Sobrido, María-Jesús
Quintáns, Beatriz
Baquero, Miguel
Cui, Xiaoniu
Zhang, Xiang-Yang
Wang, Lianqing
Xu, Haibo
Wang, Junhan
Yao, Jing
Dai, Xiaohua
Liu, Juan
Zhang, Lu
Ma, Hongying
Gao, Yong
Ma, Xixiang
Feng, Shenglei
Liu, Mugen
Wang, Qing K
Forster, Ian C
Zhang, Xue
Liu, Jing-Yu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_923954994
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_923954994
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.1077
