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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Detalles Bibliográficos
Autores principales: Ding, Yan, Dong, Hui-Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887738/
https://www.ncbi.nlm.nih.gov/pubmed/29578123
http://dx.doi.org/10.4103/0366-6999.228245

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887738/
https://www.ncbi.nlm.nih.gov/pubmed/29578123
http://dx.doi.org/10.4103/0366-6999.228245

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