Article
Unique spectrum of GJB2 mutations in Mexico.
International journal of pediatric otorhinolaryngology - 1 Nov 2012
de la Luz Arenas-Sordo Maria, Menendez Ibis, Hernández-Zamora Edgar, Sirmaci Asli, Gutiérrez-Tinajero Diana, McGetrick Molly, Murphy-Ruiz Paulina, Leyva-Juárez Xolotl, Huesca-Hernández Fabiola, Dominguez-Aburto Juan, Tekin Mustafa
Abstract excerpt
OBJECTIVE: The aim of this study was to elucidate the involvement of mutations in three relatively common deafness genes in Mexican individuals with non-syndromic hearing loss. METHODS: We sequenced GJB2 for mutations, screened for two deletions involving GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), and for the m.1555A>G mutation in the MTRNR1 gene in 76 (71 simplex and 5 multiplex) unrelated Mexican probands...
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