title: Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome.
authors: Scientific Centre of Children Health, Genetic Group, Lomonosovsky Prospect, 2/62, 119991, Moscow, RussianFederation. tikhomirov@nczd.ru
authors: Eugeny
authors: E
authors: Tikhomirov
authors: Natalia
authors: N
authors: Averyanova
authors: Gulnara
authors: G
authors: Bayazutdinova
authors: Tatiana
authors: T
authors: Voznesenskaya
authors: Alexey
authors: A
authors: Tsygin
mesh_terms: 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
chemical_list: D003062:Codon; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D013256:Steroids