Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type.
Tikhomirov
Eugeny
E
Scientific Centre of Children Health, Moscow, Russian Federation. tikhomirov@nczd.ru
Voznesenskaya
Tatjiana
T
Tsygin
Alexey
A
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D005387:Finland; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000145:classification / Q000151:congenital / Q000235:genetics*
D003062:Codon; D008565:Membrane Proteins; C113267:nephrin