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Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

dc.contributor.authorBrennenstuhl, Heiko
dc.contributor.authorDidiášová, Miroslava
dc.contributor.authorAssmann, Birgit
dc.contributor.authorBertoldi, Mariarita
dc.contributor.authorMolla, Gianluca
dc.contributor.authorJung-Klawitter, Sabine
dc.contributor.authorKuseyri Hübschmann, Oya
dc.contributor.authorSchröter, Julian
dc.contributor.authorOpladen, Thomas
dc.contributor.authorTikkanen, Ritva
dc.date.accessioned2022-08-24T08:11:47Z
dc.date.available2022-08-24T08:11:47Z
dc.date.issued2020
dc.identifier.urihttps://jlupub.ub.uni-giessen.de//handle/jlupub/6848
dc.identifier.urihttp://dx.doi.org/10.22029/jlupub-6299
dc.language.isoen
dc.rightsNamensnennung 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subject.ddcddc:570
dc.titleSuccinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
dc.typearticle
local.affiliationFB 08 - Biologie und Chemie
local.source.spage1
local.source.epage15
local.source.journaltitleInternational journal of molecular sciences
local.source.volume21
local.source.articlenumber8578
local.source.urihttps://doi.org/10.3390/ijms21228578


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