. . "Anal\u00FDza genu pro connexin 26 jako nej\u010Dast\u011Bj\u0161\u00ED p\u0159\u00ED\u010Diny d\u011Bdi\u010Dn\u00E9 prelingu\u00E1ln\u00ED poruchy sluchu a hluchoty." . . . . "Mutation analysis of connexin 26 gene as the most frequent cause of prelingual nonsyndromic hearing loss."@en . . . "Mutation analysis of the connexin 26 gene as the major gene for prelingual hearing loss in Czech patients and families with prelingual nonsydromic deafness and cochlear implant recipients."@en . . "1"^^ . . . "deafness" . . . "3"^^ . "Bialel.mutace GJB2 genu zp\u016Fsobuj\u00ED t\u00E9m\u011B\u0159 40%prelingv.nesyndrom.hluchoty v \u010CR.Spektrum GJB2 mutac\u00ED v \u010CR:35delG(77%), W24X(13,4%),IVS1+1GtoA(3,4%),313del14(2,8%),delE120(1,1%).T\u011Bchto 5mutac\u00ED p\u0159edstavuje 98% v\u0161ech patog.GJB2 alel u pacient\u016F s mutacemi na obo"@cs . "0"^^ . . "NM7417" . "3"^^ . "Detekce a anal\u00FDza mutac\u00ED v genu pro connexin 26 jako nej\u010Dast\u011Bj\u0161\u00ED p\u0159\u00ED\u010Diny geneticky podm\u00EDn\u011Bn\u00E9 prelingu\u00E1ln\u00ED hluchoty." . "hearing loss" . "BiallelicGJB2mutations are detectable in about40% of Czech patients with preling.nonsyndromic deafness.GJB2mut.spectrum in cz.patients is:35delG(77%),W24X(13,4%),IVS1+1GtoA(3,4%),313dell4(2,8%),delE120(1,1%).These5mutations represent 98% of path.alleles."@en . "2006-06-23+02:00"^^ . "0"^^ . . . "deafness;hearing loss;connexin 26"@en . . . . . . "http://www.isvav.cz/projectDetail.do?rowId=NM7417"^^ .