Article
Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).
Advances in anatomic pathology - 1 Jan 2008
Al-Bhalal Lulu, Akhtar Mohammed
Abstract excerpt
Autosomal recessive polycystic kidney disease (ARPKD) is a serious genetic disease characterized by cystic changes in the collecting ducts of the kidney and bile ducts within the liver. The gene for ARPKD (PKHD1) is located on chromosome 6p12 and encodes a protein called fibrocystin/polyductin (FPC), 1 of many proteins that are normally present at the primary cilia of the renal tubules and intrahepatic bile...
Topics
- ErbB Receptors
- Humans
- Mutation
- Phenotype
- Polycystic Kidney, Autosomal Recessive
- Proto-Oncogene Proteins c-myc
- Receptors, Cell Surface
- TRPP Cation Channels