Article
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Wu Bai-Lin, Lindeman Neal, Lip Va, Adams Albert, Amato R Stephen, Cox Gerald, Irons Mira, Kenna Margaret, Korf Bruce, Raisen Jay, Platt Orah
Abstract excerpt
PURPOSE: Hearing loss is a common congenital disorder that is frequently associated with mutations in the GJB2 gene encoding the connexin 26 protein (Cx26). We sought to evaluate the effectiveness of direct DNA sequencing for detection of Cx26 mutations as a clinical diagnostic test. METHODS: We designed a clinical assay using a three-step polymerase chain reaction (PCR)-based DNA sequencing strategy to detect...
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