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A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family
OBJECTIVE: To investigate whether a novel compound heterozygous mutations c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) in GJB2 result in hearing loss. METHODS: Allele‐specific PCR‐based universal array (ASPUA) screening and sequence analysis were applied to identify these mutations. 3D model was b...
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| Publicado en: | J Clin Lab Anal |
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| Autores principales: | , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6817138/ https://ncbi.nlm.nih.gov/pubmed/29665173 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22444 |
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