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Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification
Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted fro...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3577762/ https://www.ncbi.nlm.nih.gov/pubmed/23437308 http://dx.doi.org/10.1371/journal.pone.0057060 |