Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population-evidence for a new ethnic-specific variant

Number of the records: 1

Title	Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population-evidence for a new ethnic-specific variant
Author	Šafka-Brožková Dana
Co-authors	Varga Lukáš 1982- SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV
	Uhrová Meszarosová Anna
	Slobodová Zuzana SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV
	Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV
	Šoltýsová Andrea 1980- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV
	Ficek Andrej
	Jencik Jan
	Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV ^RID ^ORCID
	Seeman Pavel

Source document	ORPHANET J RARE DIS. Vol. 15, no. 1 (2020), art. no. 222
Language	eng - English
Note	open access
URL	URL link
Document kind	rozpis článkov z periodík (rbx)
Category	ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus
Category of document (from 2022)	V3 - Vedecký výstup publikačnej činnosti z časopisu
Type of document	článok
Year	2020
Registered in	WOS
Registered in	SCOPUS
DOI	10.1186/s13023-020-01508-3

article

	File name	Access	Size	Downloaded	Type	License
	Variant c.2158_2A G in MANBA.pdf	available	1 MB	3	Publisher's version

rok	CC	IF	IF Q (best)	JCR Av Jour IF Perc	SJR	SJR Q (best)	CiteScore
	N

rok vydania	rok metriky	IF	IF Q (best)	SJR	SJR Q (best)
2020	2019	3.523	Q2	1.275	Q1

Number of the records: 1