Article
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Human molecular genetics - 1 Sept 2007
Thys Melissa, Schrauwen Isabelle, Vanderstraeten Kathleen, Janssens Katrien, Dieltjens Nele, Van Den Bogaert Kris, Fransen Erik, Chen Wenjie, Ealy Megan, Claustres Mireille, Cremers Cor R W J, Dhooge Ingeborg, Declau Frank, Claes Jos, Van de Heyning Paul, Vincent Robert, Somers Thomas, Offeciers Erwin, Smith Richard J H, Van Camp Guy
Abstract excerpt
Otosclerosis is a progressive hearing loss characterized by an abnormal bone homeostasis of the otic capsule that leads to stapes fixation. Although its etiology remains unknown, otosclerosis can be considered a complex disease. Transforming growth factor-beta 1 (TGF-beta1) was chosen for a case-control association study, because of several non-genetic indications of involvement in otosclerosis. Single nucleotide...
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