Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. [electronic resource]
Producer: 20150330Description: 127-37 p. digitalISSN:- 1399-0004
- Base Sequence
- Cardiomyopathies -- genetics
- Cardiomyopathy, Dilated -- genetics
- Carnitine -- deficiency
- Child
- Child, Preschool
- Codon, Nonsense -- genetics
- DNA Primers -- genetics
- Echocardiography
- Female
- Humans
- Hyperammonemia -- genetics
- Infant
- Lebanon
- Logistic Models
- Male
- Molecular Sequence Data
- Muscular Diseases -- genetics
- Myocardium -- pathology
- Odds Ratio
- Organic Cation Transport Proteins -- genetics
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Sequence Deletion -- genetics
- Solute Carrier Family 22 Member 5
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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