Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease

Nephrology (Carlton). 2017 Apr;22(4):330-331. doi: 10.1111/nep.12919.
No abstract available

Keywords: Autosomal recessive; PKHD1; polycystic kidney.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Computational Biology / methods*
  • DNA Mutational Analysis*
  • Databases, Genetic
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Infant
  • Male
  • Models, Molecular
  • Mutation, Missense*
  • Phenotype
  • Polycystic Kidney, Autosomal Recessive / diagnosis
  • Polycystic Kidney, Autosomal Recessive / enzymology
  • Polycystic Kidney, Autosomal Recessive / genetics*
  • Protein Conformation
  • Receptors, Cell Surface / chemistry
  • Receptors, Cell Surface / genetics*
  • Receptors, Cell Surface / metabolism
  • Structure-Activity Relationship

Substances

  • PKHD1 protein, human
  • Receptors, Cell Surface