Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Many proteins necessary for sound transduction have been discovered through positional cloning of genes that cause deafness(1–3). In this study, we report that mutations of LRTOMT are associated with profound non-syndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT ha...

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Detalles Bibliográficos
Autores principales: Ahmed, Zubair M, Masmoudi, Saber, Kalay, Ersan, Belyantseva, Inna A, Mosrati, Mohamed Ali, Collin, Rob W J, Riazuddin, Saima, Hmani-Aifa, Mounira, Venselaar, Hanka, Kawar, Mayya N, Abdelaziz, Tlili, van der Zwaag, Bert, Khan, Shahid Y, Ayadi, Leila, Riazuddin, S Amer, Morell, Robert J, Griffith, Andrew J, Charfedine, Ilhem, Çaylan, Refik, Oostrik, Jaap, Karaguzel, Ahmet, Ghorbel, Abdelmonem, Riazuddin, Sheikh, Friedman, Thomas B, Ayadi, Hammadi, Kremer, Hannie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2008
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404732/
https://www.ncbi.nlm.nih.gov/pubmed/18953341
http://dx.doi.org/10.1038/ng.245

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