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Mutations and altered expression of SERPINF1 in patients with familial otosclerosis
Otosclerosis is a relatively common heterogenous condition, characterized by abnormal bone remodelling in the otic capsule leading to fixation of the stapedial footplate and an associated conductive hearing loss. Although familial linkage and candidate gene association studies have been performed in...
Autores principales: | Ziff, Joanna L., Crompton, Michael, Powell, Harry R.F., Lavy, Jeremy A., Aldren, Christopher P., Steel, Karen P., Saeed, Shakeel R., Dawson, Sally J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181625/ https://www.ncbi.nlm.nih.gov/pubmed/27056980 http://dx.doi.org/10.1093/hmg/ddw106 |
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