First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification

References

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	Year	Citations
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis Cheng Wang, Yulei Li, Lei Shi, Nature Genetics Molecular NeuroscienceSignal TransductionMendelian DisorderGenetic DisorderMedicine	2012	407
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice Annika Keller, Ana Westenberger, María Jesús Sobrido, Nature Genetics Molecular NeuroscienceNeurologyNeuroscienceBrain PathologyMolecular Neurobiology	2013	324
Mutation of the <i>PDGFRB</i> gene as a cause of idiopathic basal ganglia calcification Gaël Nicolas, Cyril Pottier, David Maltête, Neurology	2012	275
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification Yang Zhang, Xianan Guo, Anhua Wu PLoS ONE Novel MutationMendelian DisorderGenetic DisorderMedicineGenetics	2013	56
PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy Gaël Nicolas, Anne Rovelet‐Lecrux, Cyril Pottier, Journal of Molecular Neuroscience Neurological DisorderPdgfb Partial DeletionPathologyBrain InjuryNeuroscience	2014	54
Two Highly Conserved Glutamate Residues Critical for Type III Sodium-dependent Phosphate Transport Revealed by Uncoupling Transport Function from Retroviral Receptor Function Pernille Bøttger, Lene Pedersen Journal of Biological Chemistry	2002	49
Factors affecting vitamin D status in different populations in the city of São Paulo, Brazil: the São PAulo vitamin D Evaluation Study (SPADES) Sérgio Setsuo Maeda, Gabriela Luporini Saraiva, Ilda S. Kunii, BMC Endocrine Disorders	2013	44

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