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Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency
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...
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| Publicado no: | Neurology |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7713737/ https://ncbi.nlm.nih.gov/pubmed/32887777 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000010730 |
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