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A truncating mutation in GPSM2 is associated with recessive nonsyndromic hearing loss
Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive nonsyndromic hearing loss DFNB82. Here, we report...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2011
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3657750/ https://ncbi.nlm.nih.gov/pubmed/21348867 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01654.x |
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