Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>...

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Main Authors: Borck, Guntram, Rehman, Atteeq Ur, Lee, Kwanghyuk, Pogoda, Hans-Martin, Kakar, Naseebullah, von Ameln, Simon, Grillet, Nicolas, Hildebrand, Michael S., Ahmed, Zubair M., Nürnberg, Gudrun, Ansar, Muhammad, Basit, Sulman, Javed, Qamar, Morell, Robert J., Nasreen, Nabilah, Shearer, A. Eliot, Ahmad, Adeel, Kahrizi, Kimia, Shaikh, Rehan S., Ali, Rana A., Khan, Shaheen N., Goebel, Ingrid, Meyer, Nicole C., Kimberling, William J., Webster, Jennifer A., Stephan, Dietrich A., Schiller, Martin R., Bahlo, Melanie, Najmabadi, Hossein, Gillespie, Peter G., Nürnberg, Peter, Wollnik, Bernd, Riazuddin, Saima, Smith, Richard J.H., Ahmad, Wasim, Müller, Ulrich, Hammerschmidt, Matthias, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Ahmad, Jamil, Kubisch, Christian
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035704/
https://ncbi.nlm.nih.gov/pubmed/21255762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.12.011
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