Upstream open reading frame-introducing variants in patients with primary familial brain calcification-Reference-Cited by-同舟云学术

Upstream open reading frame-introducing variants in patients with primary familial brain calcification

Published:2024-03-04 Issue:7 Volume:32 Page:779-785
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Rovelet-Lecrux Anne,Bonnevalle Antoine,Quenez Olivier^ORCID,Delcroix Wandrille^ORCID,Cassinari Kévin,Richard Anne-Claire,Boland Anne^ORCID,Deleuze Jean-François^ORCID,Goizet Cyril,Rucar Alice,Verny Christophe,Nguyen Karine,Lecourtois Magalie^ORCID,Nicolas Gaël^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01580-4.pdf

Reference31 articles.

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2. Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, et al. Genotype-phenotype relations in primary familial brain calcification: systematic MDSGene Review. Mov Disord. 2021;36:2468–80.

3. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012;44:254–6.

4. Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013;80:181–7.

5. Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013;45:1077–82.

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