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The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan
The DFNB79 locus harbors TPRN mutations that have been reported in a few families with deafness. Four frameshift mutations in TPRN have been described to cause severe or severe-to-profound hearing loss in Moroccan and Pakistani families, and a single frameshift mutation was associated with progressi...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3654082/ https://ncbi.nlm.nih.gov/pubmed/23340767 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10528-013-9568-y |
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