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 - Concepedia

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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

DOI Full Paper Access

11

Citations

33

References

2020

Year

Dana Šafka Brožková, Lukáš Varga, Anna Uhrová Mészárosová, Zuzana Slobodová, Martina Škopková, Andrea Šoltýsová, Andrej Ficek, Ján Jenčík, Jana Laštůvková, Daniela Gašperíková,

Orphanet Journal of Rare Diseases

Abstract

Beta-mannosidosis, due to a homozygous c.2158-2A>G MANBA variant, is an important and previously unknown cause of hearing loss and mental retardation among Central European Roma.

References

	Year	Citations

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