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Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss

Beck, Christopher (2015) Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. PhD, Universität Regensburg.

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Date of publication of this fulltext: 21 Aug 2015 16:04

Abstract (English)

The prevalence of hearing impairment is estimated as approximately 1 on 1,000 newborn children. To assess a higher mutation detection rate in individuals with hearing loss a three-step mutation screening program consisting of GJB2 in first line, then GJB1, GJB3 and GJB6 (second step) and if tested negative or heterozygote, testing of GJA1, GJB4, SLC26A4 and PJVK (third) was performed. Audiograms ...

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Translation of the abstract (German)

Die Prävalenz einer Hörschädigung/Schwerhörigkeit wird mit etwa 1 auf 1000 Neugeborene angegeben. Um eine höhere Rate an detektierten Mutationen bei betroffenen Patienten mit erblicher Schwerhörigkeit zu erreichen, wurde ein dreistufiges Mutations-Screening-Programm etabliert mit der Untersuchung des GJB2-Gens im ersten Schritt, nachfolgender Untersuchung von GJB1, GJB3 und GJB6 (2. Schritt) und ...

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Item type:Thesis of the University of Regensburg (PhD)
Date:21 August 2015
Referee:Prof. Dr. Charalampos Aslanidis
Date of exam:6 August 2015
Institutions:Medicine > Lehrstuhl für Hals-Nasen-Ohren-Heilkunde
Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin
Keywords:non-syndromic, deafness, GJB2, genotype, phenotype, mutation
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:32358
Owner only: item control page

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