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USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1
We ascertained two large Pakistani consanguineous families (PKDF231 and PKDF608) segregating profound hearing loss, vestibular dysfunction, and retinitis pigmentosa, the defining features of Usher syndrome type 1 (USH1). To date seven USH1 loci have been reported. Here, we map a novel locus, USH1K,...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2012
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3596105/ https://ncbi.nlm.nih.gov/pubmed/22718019 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2012.79 |
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