Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12779/7018
Title: Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU
Authors: Ascher, David B.
Spiga, Ottavia 
Sekelska, Martina
Pires, Douglas E. V.
Bernini, Andrea 
Tiezzi, Monica
Kralovicova, Jana
Borovska, Ivana
Soltysova, Andrea
Olsson, Birgitta
Galderisi, Silvia 
Cicaloni, Vittoria 
Ranganath, Lakshminarayan
Santucci, Annalisa 
Zatkova, Andrea
Keywords: Genetics; Genetics (clinical)
Issue Date: 2019
Project: None 
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Description: 
170933
URI: http://hdl.handle.net/20.500.12779/7018
ISSN: 1018-4813
DOI: 10.1038/s41431-019-0354-0
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