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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

Abstract Background The Roma are a European ethnic minority threatened by several recessive diseases. Variants in MANBA cause a rare lysosomal storage disorder named beta-mannosidosis whose clinical manifestation includes deafness and mental retardation. Since 1986, only 23 patients with beta-mannos...

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Autori principali: Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova, Pavel Seeman
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2020-08-01
Serie:Orphanet Journal of Rare Diseases
Soggetti:
Beta-mannosidosis
Ethnic-specific variant
Hearing loss
Roma
Mental retardation
Accesso online:http://link.springer.com/article/10.1186/s13023-020-01508-3
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