Journal of Medical Genetics · 1999 · 29 citations · 1 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsChannelopathiesCochlear DisordersGenetic DisordersHearing ImpairmentHearing LossNeurogenetic DisordersConnexin Gene MutationsGap Junction ChannelsGenetic Inner Ear Disorders
1. Xia J-H, 2. Liu C-Y, 3. Tang B-S, 4. et al. (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 20.4:370–373. Over 40 loci for deafness have been genetically mapped but only in very recent years have causative genes been identified. Two of these are connexins and this promted Xia et al to search for new human connexin genes and look for mutations in families with deafness. From a database, two overlapping ESTs were identified with …
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