Article
Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.
Human molecular genetics - 15 Jun 2016
Ziff Joanna L, Crompton Michael, Powell Harry R F, Lavy Jeremy A, Aldren Christopher P, Steel Karen P, Saeed Shakeel R, Dawson Sally J
Abstract excerpt
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 recent years, little progress has been made in identifying disease-causing genes. Here, we used whole-exome...
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