Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria.
Caridi
Gianluca
G
Bertelli
Roberta
R
Perfumo
Francesco
F
Ghiggeri
Gian Marco
GM
D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011507:Proteinuria / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D011506:Proteins; C113267:nephrin