Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

David B. Ascher, Ottavia Spiga, Martina Sekelská, Douglas E. V. Pires, Andrea Bernini, Monica Tiezzi, Jana Královičová, Ivana Borovská, Andrea Šoltýsová, Birgitta Olsson,

European Journal of Human Genetics · 2019 · 75 citations · 44 references

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