Article
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Human mutation - 1 Oct 2002
Ferraris Alessandro, Rappaport Eric, Santacroce Rosa, Pollak Eleanor, Krantz Ian, Toth Stephen, Lysholm Frida, Margaglione Maurizio, Restagno Gabriella, Dallapiccola Bruno, Surrey Saul, Fortina Paolo
Abstract excerpt
Hereditary hearing loss (HHL) is one of the most common congenital disorders and is highly heterogeneous. Mutations in the connexin 26 (CX26) gene (GJB2) account for about 20% of all cases of childhood deafness, and approach 50% in documented recessive cases of non-syndromic hearing loss. In addition, a single mitochondrial DNA mutation, mt1555A>G, in the 12S rRNA gene (MTRNR1), is associated with familial cases...
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