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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, Dana; Varga, Lukas; Uhrova Meszarosova, Anna; Slobodova, Zuzana; Skopkova, Martina; Soltysova, Andrea; Ficek, Andrej; Jencik, Jan; Lastuvkova, Jana; Gasperikova, Daniela; Seeman, Pavel.
Affiliation
  • Safka Brozkova D; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic. dana.brozkova@lfmotol.cuni.cz.
  • Varga L; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
  • Uhrova Meszarosova A; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Slobodova Z; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
  • Skopkova M; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
  • Soltysova A; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Ficek A; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Jencik J; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
  • Lastuvkova J; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Gasperikova D; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
  • Seeman P; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Orphanet J Rare Dis ; 15(1): 222, 2020 08 26.
Article in En | MEDLINE | ID: mdl-32847582
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Roma / Deafness / Beta-Mannosidosis / Hearing Loss Limits: Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2020 Document type: Article Affiliation country: Czech Republic Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Roma / Deafness / Beta-Mannosidosis / Hearing Loss Limits: Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2020 Document type: Article Affiliation country: Czech Republic Country of publication: United kingdom