A carregar...
Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification
Primary familial brain calcification (PFBC) is a rare neurological disease characterized by deposits of calcium phosphate in the basal ganglia and other regions of the brain. Pathogenic variants in the XPR1/SLC53A1 gene, which encodes the only known inorganic phosphate exporter, cause an autosomal d...
Na minha lista:
| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6494797/ https://ncbi.nlm.nih.gov/pubmed/31043717 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-43255-x |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|