A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

Background: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and...

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Bibliographic Details
Main Authors: Yan Ding, Hui-Qing Dong
Format: Article
Language:English
Published: Wolters Kluwer 2018-01-01
Series:Chinese Medical Journal
Subjects:
Genotype; Idiopathic Basal Ganglia Calcification; Phenotype; SLC20A2
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=7;spage=799;epage=803;aulast=Ding

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http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=7;spage=799;epage=803;aulast=Ding

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