Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family

Clin Genet. 2015 Jun;87(6):599-601. doi: 10.1111/cge.12486. Epub 2014 Nov 11.
No abstract available

Publication types

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

MeSH terms

  • Computational Biology*
  • Consanguinity*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Membrane Proteins / genetics*
  • Nephrotic Syndrome / diagnosis*
  • Nephrotic Syndrome / genetics*
  • Pakistan
  • Sequence Deletion*

Substances

  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • NPHS2 protein

Supplementary concepts

  • Nephrosis, congenital