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)

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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 ; SAVEXEND - Biomedicínske centrum SAV
Co-authors	Královičová Jana 1972- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ^SCOPUS ^RID
	Borovská Ivana 1993- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ^ORCID
	Šoltýsová Andrea 1980- SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV
	Olsson Birgitta
	Asher D.B.
	Pires Douglas E.V.
	Ranganath Lakshminarayan R.
	Zaťková Andrea 1971- SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV ^SCOPUS ^RID ^ORCID

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
Language	eng - English
Country	IT - Italy
URL	URL link
Document kind	rozpis článkov z periodík (rzb)
Category	GAI - Reports
Year	2018

article

rok vydania	rok metriky	IF	IF Q (best)	SJR	SJR Q (best)
2018

Number of the records: 1