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pkhd1
- The PKHD1 gene provides instructions for making a protein called fibrocystin (sometimes known as polyductin). This protein is present ... remains unclear. More than 270 mutations in the PKHD1 gene have been identified in people with polycystic ...
- ... 000 people. Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease.Mutations in either ... people with a PKD2 mutation.Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. This ...
