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In: Gorlin RJ, Toriello HV, Cohen Jr MM, editors. Hereditary Hearing Loss and Its Syn dromes. New York: Oxford Monographs on Medical Genetics. 9\u201321."},{"key":"ref12","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.neuron.2010.10.011","article-title":"Hearing impairment: a panoply of genes and functions","volume":"68","author":"AA Dror","year":"2010","journal-title":"Neuron"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1126\/science.283.5405.1176","article-title":"Three-dimensional structure of a recombinant gap junction membrane channel","volume":"283","author":"VM Unger","year":"1999","journal-title":"Science"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.bbamem.2005.04.001","article-title":"Structural organization of gap junction channels","volume":"1711","author":"GE Sosinsky","year":"2005","journal-title":"Biochim Biophys Acta"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"e35","DOI":"10.1017\/S1462399409001276","article-title":"Connexin-26 mutations in deafness and skin disease","volume":"11","author":"JR Lee","year":"2009","journal-title":"Expert Rev Mol Med"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"e21473","DOI":"10.1371\/journal.pone.0021473","article-title":"A novel missense mutation in the connexin30 causes nonsyndromic hearing loss","volume":"6","author":"WH Wang","year":"2011","journal-title":"PLoS One"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1002\/humu.1156","article-title":"Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana","volume":"18","author":"C Hamelmann","year":"2001","journal-title":"Hum Mutat"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1136\/jmg.37.5.368","article-title":"A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss","volume":"37","author":"L Morle","year":"2000","journal-title":"J Med Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1016\/j.ijporl.2012.04.027","article-title":"Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss","volume":"76","author":"SA Zainal","year":"2012","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"C966","DOI":"10.1152\/ajpcell.00008.2008","article-title":"Connexin26 deafness associated mutations show altered permeability to large cationic molecules","volume":"295","author":"G Mese","year":"2008","journal-title":"Am J Physiol Cell Physiol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1016\/j.bpj.2010.01.019","article-title":"Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability","volume":"98","author":"C Ambrosi","year":"2010","journal-title":"Biophys J"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1074\/jbc.M207713200","article-title":"Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. 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Accessed 2012 Dec 12."},{"key":"ref30","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera--a visualization system for exploratory research and analysis","volume":"25","author":"EF Pettersen","year":"2004","journal-title":"J Comput Chem"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1107\/S0907444904025491","article-title":"Differential evolution for protein crystallographic optimizations","volume":"60","author":"DE McRee","year":"2004","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1007\/s10528-009-9314-7","article-title":"Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss","volume":"48","author":"A Yilmaz","year":"2010","journal-title":"Biochem Genet"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1097\/GIM.0b013e3180a03276","article-title":"A 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