Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type

Hum Genet. 2009 Apr;125(3):334.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Codon / genetics
  • Finland
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Nephrotic Syndrome / classification
  • Nephrotic Syndrome / congenital
  • Nephrotic Syndrome / genetics*

Substances

  • Codon
  • Membrane Proteins
  • nephrin

Associated data

  • GENBANK/HM080063