Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype

J Genet. 2013 Dec;92(3):577-81. doi: 10.1007/s12041-013-0290-7.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Association Studies
  • Genotype
  • Greece
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Nephrotic Syndrome / congenital
  • Nephrotic Syndrome / diagnosis*
  • Nephrotic Syndrome / genetics
  • Point Mutation

Substances

  • Membrane Proteins
  • nephrin