Luiz F Onuchic

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Carsten Bergmann, Sabine Rudnik-Schöneborn, Klaus Zerres, 2003, Journal of the American Society of Nephrology : JASN.

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Carsten Bergmann, Klaus Zerres, Ali Gharavi, 2003, Journal of the American Society of Nephrology : JASN.