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Mutationsanalyse in ABCA4-assoziierten Netzhautdystrophien mittels der Didesoxymethode nach Sanger

Lenhardt, Nina-Veronika Ingeborg (2015) Mutationsanalyse in ABCA4-assoziierten Netzhautdystrophien mittels der Didesoxymethode nach Sanger. PhD, Universität Regensburg.

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Date of publication of this fulltext: 27 May 2015 16:34

Abstract (German)

Im Rahmen dieser Arbeit wurde das ABCA4-Gen von insgesamt 62 Morbus Stargardt (STGD)-, Zapfen-/Stäbchen-Dystrophie (ZSD)- und altersabhängiger Makuladegeneration (AMD)-Patienten mittels direkter Sanger-Sequenzierung untersucht, bei denen im Rahmen der Routinediagnostik lediglich ein krankheitsverursachendes Allel gefunden worden war. Durch die hierbei zusätzlich detektierten ABCA4-Varianten ...

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Translation of the abstract (English)

By direct DNA Sanger sequencing, this study analysed the ABCA4 gene in 62 patients diagnosed with Stargardt disease (STGD), cone rod dystrophy (CRD) and age-related macular degeneration (AMD). During routine diagnostic testing, these patients were shown to carry a single pathogenic allele, thus the required second mutation was still evasive in all cases. Following this approach, the clinical ...

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Item type:Thesis of the University of Regensburg (PhD)
Date:27 May 2015
Referee:Prof. Dr. Bermhard Weber
Date of exam:21 May 2015
Institutions:Medicine > Lehrstuhl für Humangenetik
Keywords:ABCA4, M. Stargardt, Mutationsanalyse, direkte Sequenzierung
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:31866
Owner only: item control page

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