Article
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
PloS one - 1 Jan 2015
Mašindová Ivica, Šoltýsová Andrea, Varga Lukáš, Mátyás Petra, Ficek Andrej, Hučková Miloslava, Sůrová Martina, Šafka-Brožková Dana, Anwar Saima, Bene Judit, Straka Slavomír, Janicsek Ingrid, Ahmed Zubair M, Seeman Pavel, Melegh Béla, Profant Milan, Klimeš Iwar, Riazuddin Saima, Kádasi Ľudevít, Gašperíková Daniela
Abstract excerpt
BACKGROUND: In the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia and Hungary), and 2) to analyze a possible common origin of the c.1331+2T>C mutation among Roma and Pakistani mutation carriers identified in the present and previous studies. METHODS: We sequenced 6 exons of the MARVELD2 gene in a group of 143...
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