Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo

Published 2019 View Full Article

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Title
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo
Authors
Keywords
Triosephosphate isomerase, TPI deficiency, Glycolytic enzymopathy, Genomic engineering
Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2019-05-09
DOI
10.1016/j.bbadis.2019.05.002

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