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| rdf:type
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| rdfs:seeAlso
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| Description
| - 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)
- Detekce a analýza mutací v genu pro connexin 26 jako nejčastější příčiny geneticky podmíněné prelinguální hluchoty.
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| Title
| - Mutation analysis of connexin 26 gene as the most frequent cause of prelingual nonsyndromic hearing loss. (en)
- Analýza genu pro connexin 26 jako nejčastější příčiny dědičné prelinguální poruchy sluchu a hluchoty.
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| skos:notation
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| http://linked.open...avai/cep/aktivita
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| http://linked.open...kovaStatniPodpora
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| http://linked.open...ep/celkoveNaklady
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| http://linked.open...datumDodatniDoRIV
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| http://linked.open...i/cep/druhSouteze
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| http://linked.open...ep/duvernostUdaju
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| http://linked.open.../cep/fazeProjektu
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| http://linked.open...ai/cep/hlavniObor
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| http://linked.open...hodnoceniProjektu
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| http://linked.open...vai/cep/kategorie
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| http://linked.open.../cep/klicovaSlova
| - deafness;hearing loss;connexin 26 (en)
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| http://linked.open...ep/partnetrHlavni
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| http://linked.open...inujicichPrijemcu
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| http://linked.open...cep/pocetPrijemcu
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| http://linked.open...ocetSpoluPrijemcu
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| http://linked.open.../pocetVysledkuRIV
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| http://linked.open...enychVysledkuVRIV
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| http://linked.open...okUkonceniPodpory
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| http://linked.open...okZahajeniPodpory
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| http://linked.open...iciPoslednihoRoku
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| http://linked.open...atUdajeProjZameru
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| http://linked.open.../vavai/cep/soutez
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| http://linked.open...usZobrazovaneFaze
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| http://linked.open...ai/cep/typPojektu
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| http://linked.open.../cep/vedlejsiObor
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| http://linked.open...jektu+dodavatelem
| - Bialel.mutace GJB2 genu způsobují téměř 40%prelingv.nesyndrom.hluchoty v ČR.Spektrum GJB2 mutací v ČR:35delG(77%), W24X(13,4%),IVS1+1GtoA(3,4%),313del14(2,8%),delE120(1,1%).Těchto 5mutací představuje 98% všech patog.GJB2 alel u pacientů s mutacemi na obo (cs)
- 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)
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| http://linked.open...tniCyklusProjektu
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| http://linked.open.../cep/klicoveSlovo
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| is http://linked.open...vavai/riv/projekt
of | |
| is http://linked.open...vavai/cep/projekt
of | |
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