Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
The focus of our ARPKD research is on genotype/phenotype studies and on the role of a related protein PKHDL1:
- We have developed a mutation screening method of the large ARPKD gene, PKHD1, which is now available as a clinical test through the Mayo Genetic Diagnostic Laboratory. We continue to analyze this data for genotype/phenotype correlations.
- My colleague, Dr. Ward, is developing and characterizing animal models of ARPKD.
- We are developing a mouse model that disrupts, PKHDL1, a homologous gene to PKHD,1 but with no known function.
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