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Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment
Two different missense mutations, p.D572N and p.D572H, affecting the same nucleotide and codon of the TMC1 gene were earlier reported to cause autosomal dominant hearing impairment at locus DFNA36 in two North American families. No other dominant mutations of human TMC1 have been published. We ascer...
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| Główni autorzy: | , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2009
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3431155/ https://ncbi.nlm.nih.gov/pubmed/19180119 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2009.1 |
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