A novel missense variant in the homogentisate 1,2-dioxygenase (HGD) gene in a patient with clinical symptoms of alkaptonuria.


KAZIMLI U., DOĞAN M. E., BAYSAL K., ÖZKUL Y., ŞENEL S., DÜNDAR M.

13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019, vol.22, pp.166

  • Publication Type: Conference Paper / Summary Text
  • Volume: 22
  • City: Edirne
  • Country: Turkey
  • Page Numbers: pp.166
  • Erciyes University Affiliated: Yes