Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. By sequencing of 62 positional candidate genes of the critical region, we identifie...

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Autori principali: Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2833376/
https://ncbi.nlm.nih.gov/pubmed/20170898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.02.003
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