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Article

Novel ALDH5A1 variants and genotype

5 Sept 2020

Abstract excerpt

Objective To determine genotype–phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency. Methods ALDH5A1 variants were studied with phenotype correlation in the SSADH natural history study. Assignment of gene variant pathogenicity was based on in silico testing and in vitro enzyme activity after site-directed mutagenesis and expression in HEK293 cells. Phenotypic scoring used a Clinical...

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PMID: 32887777
DOI: 10.1212/wnl.0000000000010730

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