Genotype-phenotype correlation in primary carnitine deficiency. [electronic resource]
Producer: 20120423Description: 118-23 p. digitalISSN:- 1098-1004
- Adult
- Animals
- Asymptomatic Diseases
- Biological Transport
- CHO Cells
- Cardiomyopathies -- complications
- Carnitine -- deficiency
- Child
- Child, Preschool
- Codon, Nonsense
- Cricetinae
- Cricetulus
- DNA Mutational Analysis
- Ergothioneine -- metabolism
- Exons
- Female
- Fibroblasts -- metabolism
- Genetic Association Studies
- Genotype
- Humans
- Hyperammonemia -- complications
- Infant
- Muscular Diseases -- complications
- Mutagenesis, Site-Directed
- Mutation, Missense
- Organic Cation Transport Proteins -- genetics
- Phenotype
- Solute Carrier Family 22 Member 5
- Symporters
No physical items for this record
Publication Type: Journal Article; Research Support, N.I.H., Extramural
There are no comments on this title.
Log in to your account to post a comment.