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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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
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