Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

J Med Genet. 2005 Apr;42(4):336-49. doi: 10.1136/jmg.2004.024489.
No abstract available

Publication types

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

MeSH terms

  • Cohort Studies*
  • DNA Mutational Analysis / methods*
  • Evaluation Studies as Topic
  • Female
  • Fetus / metabolism
  • Genetic Testing / methods*
  • Genetic Variation
  • Genotype
  • Humans
  • Mutation*
  • Phenotype
  • Polycystic Kidney, Autosomal Recessive / blood
  • Polycystic Kidney, Autosomal Recessive / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Pregnancy
  • Receptors, Cell Surface / analysis
  • Receptors, Cell Surface / genetics*

Substances

  • PKHD1 protein, human
  • Receptors, Cell Surface