Associated Papers
Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
Jiang Y et al.
Children (basel, Switzerland), 2024
39201832 (PubMed )
Supplement: children-11-00897-s001.zip › supplementary_Figure_S3.pdf
Atypical hemolytic uremic syndrome: genetically-based insights into pathogenesis through an analysis of the complement regulator CD46.
Wu X et al.
Annals of Blood, 2023
Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.
Richards A et al.
Molecular Immunology, 2007
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
Fremeaux-Bacchi V et al.
Journal of the American Society of Nephrology : Jasn, 2006
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