Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

In a large consanguineous family of Turkish origin, genome-wide homozygosity mapping revealed a locus for recessive nonsyndromic hearing impairment on chromosome 14q24.3–q34.12. Fine mapping with microsatellite markers defined the critical linkage interval to a 18.7 cM region flanked by markers D14S...

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Main Authors: Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, van der Zwaag, Bert, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Ahmed, Zubair M., Çaylan, Refik, Li, Yun, Spierenburg, Henk A., Eyupoglu, Erol, Heister, Angelien, Riazuddin, Saima, Bahat, Elif, Ansar, Muhammad, Arslan, Selcuk, Wollnik, Bernd, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Ahmad, Wasim, Cremers, Frans P.M., Vriend, Gert, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Kremer, Hannie
格式: Artigo
語言:Inglês
出版: American Society of Human Genetics 2008
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2253958/
https://ncbi.nlm.nih.gov/pubmed/18179891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.09.008
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