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A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
While the importance of tight junctions in hearing is well established, the role of Claudin 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9, encoding a tight junction...
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| Publicado no: | Hum Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6745279/ https://ncbi.nlm.nih.gov/pubmed/31175426 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02037-1 |
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