Copy For Citation
Hinkes B. G., Mucha B., Vlangos C. N., Gbadegesin R., Liu J., Hasselbachera K., ...More
PEDIATRICS, vol.119, no.4, 2007 (SCI-Expanded)
Article / Article
Science Citation Index Expanded (SCI-EXPANDED), Scopus
nephrotic syndrome, LAMB2, NPHS1, NPHS2, WT1, FOCAL SEGMENTAL GLOMERULOSCLEROSIS, WILMS-TUMOR, MISSENSE MUTATIONS, GLOMERULAR PROTEIN, PLASMA-MEMBRANE, NEPHRIN GENE, PODOCIN, SPECTRUM, CHILDREN, ACTN4
Hacettepe University Affiliated:
OBJECTIVES. Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been implicated in nephrotic syndrome, manifesting in the first year of life. The relative frequency of causative mutations in these genes in children with nephrotic syndrome manifesting in the first year of life is unknown. Therefore, we analyzed all 4 of the genes jointly in a large European cohort of 89 children from 80 families with nephrotic syndrome manifesting in the first year of life and characterized genotype/phenotype correlations.