Conference Proceedings

26 novel homogentisate 1,2, dioxygenase (HGD) gene variants, in vitro splicing analysis and genotype-phenotype correlations in the largest cohort of patients with alkaptonuria (AKU)

M Sekelska, J Kralovicova, I Sevcikova, A Soltysova, B Olsson, DB Asher, DEV Pires, L Ranganath, A Zatkova

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2019