Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification-Reference-Cited by-同舟云学术

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

Published:2019-05-01 Issue:1 Volume:9 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

López-Sánchez Uriel^ORCID,Nicolas Gaël^ORCID,Richard Anne-Claire,Maltête David,Charif Mahmoud,Ayrignac Xavier,Goizet Cyril,Touhami Jawida,Labesse Gilles,Battini Jean-Luc,Sitbon Marc^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-019-43255-x.pdf

Reference39 articles.

1. Nicolas, G. et al. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet 168, 586–594, https://doi.org/10.1002/ajmg.b.32336 (2015).

2. Ramos, E. M., Oliveira, J., Sobrido, M. J. & Coppola, G. In GeneReviews((R)) (eds M. P. Adam et al.) (2004).

3. Wang, C. et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 44, 254–256, https://doi.org/10.1038/ng.1077 (2012).

4. Nicolas, G. et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 80, 181–187, https://doi.org/10.1212/WNL.0b013e31827ccf34 (2013).

5. Keller, A. et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 45, 1077–1082, https://doi.org/10.1038/ng.2723 (2013).

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