Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 c...

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Main Authors: Rehman, Atteeq U., Gul, Khitab, Morell, Robert J., Lee, Kwanghyuk, Ahmed, Zubair M., Riazuddin, Saima, Ali, Rana A., Shahzad, Mohsin, Jaleel, Ateeq-ul, Andrade, Paula B., Khan, Shaheen N., Khan, Saadullah, Brewer, Carmen C., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
פורמט: Artigo
שפה:Inglês
יצא לאור: 2011
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3303183/
https://ncbi.nlm.nih.gov/pubmed/21660509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-1018-5
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