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A p.C343S Missense Mutation in PJVK causes Progressive Hearing Loss
Mutations in PJVK, encoding Pejvakin, cause autosomal recessive nonsyndromic hearing loss in humans at the DFNB59 locus on chromosome 2q31.2. Pejvakin is involved in generating auditory and neural signals in the inner ear. We have identified a consanguineous Pakistani family segregating sensorineura...
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| Glavni autori: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2012
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3534776/ https://ncbi.nlm.nih.gov/pubmed/22617256 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2012.05.013 |
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