Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 130(3): 172-178, 2020 07.
Article
in En
| MEDLINE
| ID: mdl-32402538
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Developmental Disabilities
/
Mutation, Missense
/
Succinate-Semialdehyde Dehydrogenase
/
Amino Acid Metabolism, Inborn Errors
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2020
Document type:
Article
Affiliation country:
Netherlands
Country of publication:
United States