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Genotyp-Phänotyp-Korrelation bei Patienten mit Mutationen in Genen des Retinolzyklus

Eckstein, Christoph Gerd (2010) Genotyp-Phänotyp-Korrelation bei Patienten mit Mutationen in Genen des Retinolzyklus. PhD, Universität Regensburg.

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Date of publication of this fulltext: 11 Jun 2010 09:14

Abstract (German)

In dieser Arbeit wurden die Phänotypen der Mutationen der RDH12- und RDH5-Gene ermit-telt und mit den bereits publizierten klinischen Phänotypen der RPE65- und LRAT-Mutationen verglichen. Dazu wurden das RDH12- und RDH5-Gen mit Hilfe der single-strand-conformation-polymorphism-analysis (SSCP) auf Mutationen untersucht. Zeigte dieses Verfahren einen auffälligen Befund, erfolgte die Sequenzierung. ...

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Translation of the abstract (English)

In this study clinical phenotypes of mutations of the RDH12- and RDH5-genes were to be determined and compared to those of persons with mutations in the RPE65- and LRAT-genes. The latter ones had already been published and were mentioned for comparison. The RDH12- and RDH5-genes were screened by the single-strand-conformation-polymorphism-analysis (SSCP) for mutations. Suspect results were ...

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Item type:Thesis of the University of Regensburg (PhD)
Date:11 June 2010
Referee:Prof. Dr. Birgit Lorenz
Date of exam:12 May 2010
Institutions:Medicine > Lehrstuhl für Augenheilkunde
Keywords:RDH12, RDH5, retinol cyclus, mutations of genes of the retinol cyclus, genotype phenotype correlation, bone spiculae, Knochenkörperchen, blindness, Blindheit, retinitis pigmentosa, retinopathia pigmentosa, Fundus albipunctatus, Leber´sche congenitale Amaurose, LCA, RP, Fundus autofluoreszenz, fundus autofluorescence
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:15071
Owner only: item control page

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