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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions, thus far associated with SLC20A2, PDGFB, or PDGFRB mutations. We identified in multiple PFBC families mutations in XPR1, a gene encoding a r...
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Publicado no: | Nat Genet |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2015
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4516721/ https://ncbi.nlm.nih.gov/pubmed/25938945 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3289 |
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