sábado, 29 de agosto de 2020

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 | Orphanet Journal of Rare Diseases | Full Text

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 | Orphanet Journal of Rare Diseases | Full Text

The Roma are a European ethnic minority threatened by several recessive diseases.
Authors:Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova and Pavel Seeman
Citation:Orphanet Journal of Rare Diseases 2020 15:222
Content type:Research
 
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