Učitavanje...
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 genes identified. Recently, TMEM132E, which is highly expressed in inner hair cells, was suggested as a novel ARNSHI gene for DFNB99. A missense variant c.1259G>A: p.(Arg42...
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| Izdano u: | J Hum Genet |
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| Glavni autori: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer Singapore
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8216908/ https://ncbi.nlm.nih.gov/pubmed/31656313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-019-0691-4 |
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