Missense Variant in TPI1 (arg189gln) Causes Neurologic Deficits Through Structural Changes in the Triosephosphate Isomerase Catalytic Site and Reduced Enzyme Levels in Vivo.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease（2019）
Key words
Triosephosphate isomerase,TPI deficiency,Glycolytic enzymopathy,Genomic engineering
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