Molecular defects in alkaptonuria.

  title={Molecular defects in alkaptonuria.},
  author={Andrea E. Gehrig and S. R. Schmidt and Clemens R. Mueller and Stefan Srsen and Klara Srsnova and Wolfram Kress},
  journal={Cytogenetics and cell genetics},
  volume={76 1-2},
At the dawn of human genetics Sir Archibald Garrod used alkaptonuria as a paradigm to demonstrate the applicability of the Mendelian laws to men and to develop the concept of inborn errors of metabolism. The human cDNA for homogentisate 1,2 dioxygenase was identified due to its homology to the corresponding mouse enzyme and was screened for mutations in alkaptonuric patients from Slovakia. Homozygous mutations were found in four unrelated families and their segregation with the disease was… CONTINUE READING