Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Mol Genet Metab
; 125(3): 266-275, 2018 11.
Article
in En
| MEDLINE
| ID: mdl-30274917
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Structure-Activity Relationship
/
Genetic Predisposition to Disease
/
Methylmalonyl-CoA Decarboxylase
/
Propionic Acidemia
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2018
Document type:
Article
Country of publication:
United States