Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In a Dutch family segregating arNSHI, homozygosity mapping revealed a 2.4 Mb homozygous region on chromosome 11 in p15.1-15.2, which partially...

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Autors principals: Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J., Sezgin, Orhan, Beynon, Andy J., Strom, Tim M., Pennings, Ronald J.E., Seco, Celia Zazo, Oonk, Anne M.M., Kunst, Henricus P.M., Domínguez-Ruiz, María, García-Arumi, Ana M., del Campo, Miguel, Villamar, Manuela, Hoefsloot, Lies H., Moreno, Felipe, Admiraal, Ronald J.C., del Castillo, Ignacio, Kremer, Hannie
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487128/
https://ncbi.nlm.nih.gov/pubmed/23122587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.012
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