Item type:Thesis, Open Access

Punktmutationssuche bei den GLI3-assoziierten Krankheitsbildern Greig Cephalopolysyndaktylie-Syndrom und Pallister-Hall-Syndrom

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Date

2005-11-11

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Philipps-Universität Marburg
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Abstract

In order to gain more insight into the mutational spectrum and the Genotype-Phanotype relation associated with the GLI3-diseases (for example Greig Cephalopolysyndaktylie-Syndrom and Pallister-Hall-Syndrom), this work reports the extension of the GLI3 mutation analysis to 24 new cases. It reports the identification of 9 novel mutations present in one of the patients GLI3 allels.

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Dates
Created: 2005Issued: 2005-11-11Updated: 2011-08-10
DOI
https://doi.org/10.17192/z2005.0557
Faculty
Medizin
Publisher
Philipps-Universität Marburg
Language
ger
Data types
DoctoralThesis
Keywords
Limb developmentPallister-Hall-SyndromGreig Cephalopolysyndaktylie-SyndromGLI3Human genetics
DFG-subjects
HumangenetikExtremitätenentwicklungSonic hedgehogGreig Cephalopolysyndaktylie-SyndromPallister-Hall-SyndromGLI3
DDC-Numbers
610
License
https://rightsstatements.org/vocab/InC-NC/1.0/
URI
https://open.uni-marburg.de/handle/10.17192/z2005.0557
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Freese, Kerstin Britta: Punktmutationssuche bei den GLI3-assoziierten Krankheitsbildern Greig Cephalopolysyndaktylie-Syndrom und Pallister-Hall-Syndrom. : Philipps-Universität Marburg 2005-11-11. DOI: https://doi.org/10.17192/z2005.0557.

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This item has been published with the following license: In Copyright