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Funktionelle Untersuchungen zu Krankheits-assoziierten Mutationen in den Genen ABCA4 und VMD2

URN to cite this document: urn:nbn:de:bvb:355-epub-236047

Aichinger, Corinna (2012) Funktionelle Untersuchungen zu Krankheits-assoziierten Mutationen in den Genen ABCA4 und VMD2. PhD, Universität Regensburg

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Abstract (German)

Morbus Stargardt wird durch Mutationen im ABCA4-Gen verursacht, während Morbus Best und ADVIRC (autosomal dominante Vitreoretinochoroidopathie) durch Mutationen im VMD2-Gen hervorgerufen werden. Solche Mutationen lassen sich in verschiedene Klassen einteilen, wie z.B. Missense-, Nonsense- oder Splice site-Mutationen. Auch Deletionen oder Insertionen, die zum Teil größere Bereiche der jeweiligen ...

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Translation of the abstract (English)

Stargardt disease is caused by mutations in the ABCA4 gene, whereas mutations in the VMD2 gene lead to Best disease and ADVIRC (autosomal dominant vitreoretinochoroidpathy). Such mutations can be divided into different classes, e.g. missense, nonsense or splice site mutations. Deletions or insertions, which in some extent involve larger parts of the gene associated with the respective disease, ...

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Export bibliographical data

Item Type:Thesis of the University of Regensburg (PhD)
Date:20 March 2012
Referee:Prof. Dr. Bernhard Weber
Date of exam:15 March 2012
Institutions:Medicine > Lehrstuhl für Humangenetik
Keywords:ABCA4, Morbus Stargardt, VMD2, Morbus Best, ADVIRC, Exon Trapping-Analyse, Stargardt disease, Best disease, exon trapping analysis
Subjects:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Owner: Universitätsbibliothek Regensburg
Deposited On:20 Mar 2012 11:17
Last Modified:13 Mar 2014 18:42
Item ID:23604
Owner Only: item control page
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