Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

The fact that hereditary hearing loss is the most common sensory disorder in humans is reflected by, among other things, an extraordinary allelic and nonallelic genetic heterogeneity. X-chromosomal hearing impairment represents only a minor fraction of all cases. In a study of a Spanish family the l...

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Main Authors: Huebner, Antje K., Gandia, Marta, Frommolt, Peter, Maak, Anika, Wicklein, Eva M., Thiele, Holger, Altmüller, Janine, Wagner, Florian, Viñuela, Antonio, Aguirre, Luis A., Moreno, Felipe, Maier, Hannes, Rau, Isabella, Gießelmann, Sebastian, Nürnberg, Gudrun, Gal, Andreas, Nürnberg, Peter, Hübner, Christian A., del Castillo, Ignacio, Kurth, Ingo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146719/
https://ncbi.nlm.nih.gov/pubmed/21549336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.007
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