Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

BACKGROUND: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. METHODS: Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Bademci, Guney, Lasisi, Akeem O, Yariz, Kemal O, Montenegro, Paola, Menendez, Ibis, Vinueza, Rodrigo, Paredes, Rosario, Moreta, Germania, Subasioglu, Asli, Blanton, Susan, Fitoz, Suat, Incesulu, Armagan, Sennaroglu, Levent, Tekin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422282/
https://ncbi.nlm.nih.gov/pubmed/25928534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0149-2
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