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

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-mannosidosis a...

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Detalles Bibliográficos
Autores principales: Safka Brozkova, Dana, Varga, Lukas, Uhrova Meszarosova, Anna, Slobodova, Zuzana, Skopkova, Martina, Soltysova, Andrea, Ficek, Andrej, Jencik, Jan, Lastuvkova, Jana, Gasperikova, Daniela, Seeman, Pavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448337/
https://www.ncbi.nlm.nih.gov/pubmed/32847582
http://dx.doi.org/10.1186/s13023-020-01508-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448337/
https://www.ncbi.nlm.nih.gov/pubmed/32847582
http://dx.doi.org/10.1186/s13023-020-01508-3

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