Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome.
Tikhomirov
Eugeny
E
Scientific Centre of Children Health, Genetic Group, Lomonosovsky Prospect, 2/62, 119991, Moscow, RussianFederation. tikhomirov@nczd.ru
Averyanova
Natalia
N
Bayazutdinova
Gulnara
G
Voznesenskaya
Tatiana
T
Tsygin
Alexey
A
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000235:genetics*; D013256:Steroids / Q000494:pharmacology
D003062:Codon; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D013256:Steroids