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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.
Safka Brozkova D, Varga L, Uhrova Meszarosova A, Slobodova Z, Skopkova M, Soltysova A, Ficek A, Jencik J, Lastuvkova J, Gasperikova D, Seeman P. Safka Brozkova D, et al. Among authors: soltysova a. Orphanet J Rare Dis. 2020 Aug 26;15(1):222. doi: 10.1186/s13023-020-01508-3. Orphanet J Rare Dis. 2020. PMID: 32847582 Free PMC article.
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D. Mašindová I, et al. Among authors: soltysova a. PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015. PLoS One. 2015. PMID: 25885414 Free PMC article.
39 results