Article
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.
The Annals of otology, rhinology, and laryngology - 1 Apr 1997
Friedman R A, Bykhovskaya Y, Tu G, Talbot J M, Wilson D F, Parnes L S, Fischel-Ghodsian N
Abstract excerpt
The molecular defect in some patients with X-linked mixed deafness with perilymphatic gusher at stapes surgery (DFN3) was recently attributed to mutations in the POU3F4 gene. In this manuscript we describe the molecular analysis of the POU3F4 gene in 5 patients with clinical and radiographic evidence of DFN3. Novel mutations were found in 2 of the 5 patients analyzed, while 3 had an entirely normal protein coding...
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