Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data
Lukas, Jan
1980-
aut
text
theses
Text
Hochschulschrift
gw
2013
monographic
XA-DE
2013
eng
text/html
application/pdf
Online-Ressource graph. Darst.
Fabry disease is a condition caused by mutations within a single gene (GLA) encoding lysosomal enzyme alpha-galactosidase A. Several hundred distinct mutations have been identified to cause the onset of disease. Due to the X-linked inheritance pattern, a reliable genotype/phenotype correlation especially for female patients is difficult to obtain. In the present study, 171 mutations were characterised with regard to activity, stability and the capacity of being recovered by pharmacological chaperone treatment utilising an in vitro overexpression and enzyme activity measurement system.
vorgelegt von Jan Lukas
Rostock, Univ., Mathematisch-Naturwiss. Fak., Diss., 2014
610
44.77
http://rosdok.uni-rostock.de/resolve?urn=urn:nbn:de:gbv:28-diss2014-0107-1
http://rosdok.uni-rostock.de/resolve?urn=urn:nbn:de:gbv:28-diss2014-0107-1&pdf
http://nbn-resolving.de/urn:nbn:de:gbv:28-diss2014-0107-1
Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data
2013
(DE-627)786589809
Lukas, Jan, 1980 -
urn:nbn:de:gbv:28-diss2014-0107-1
935562920
rakwb
DE-627
140820
79316088X
20230905T071751.0
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