MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin

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 carrier...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401708/
https://www.ncbi.nlm.nih.gov/pubmed/25885414
http://dx.doi.org/10.1371/journal.pone.0124232

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