XPR1 mutations are a rare cause of primary familial brain calcification.

XPR1 mutations are a rare cause of primary familial brain calcification.

Item
http://www.wikidata.org/entity/Q40733370
Brain Calcification and Movement Disorders.Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.Primary familial brain calcifications linked with a novel SLC20A2 gene mutation in a Chinese family.Fahr Syndrome - an Important Piece of a Puzzle in the Differential Diagnosis of Many Diseases.Primary brain calcification: an international study reporting novel variants and associated phenotypes
P2860

XPR1 mutations are a rare cause of primary familial brain calcification.

Item
http://www.wikidata.org/entity/Q40733370
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
XPR1 mutations are a rare cause of primary familial brain calcification.
@en
type
label
XPR1 mutations are a rare cause of primary familial brain calcification.
@en
prefLabel
XPR1 mutations are a rare cause of primary familial brain calcification.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
XPR1 mutations are a rare cause of primary familial brain calcification
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698