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Title 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) Author Sekelská Martina SAVBIOMED - Biomedicínske centrum SAV Co-authors Královičová Jana 1972- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Borovská Ivana 1993- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Olsson Birgitta Asher D.B. Pires Douglas E.V. Ranganath Lakshminarayan R. Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Source document European Human Genetics Conference 2018 : ESHG EMPAG. P. 06.03C / C. - : ESHG, 2018 ; European Human Genetics Conference 2018 European Meeting on Psychosocial Aspects of Genetics Category GAI - Reports Year 2018 URL URL link 
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