Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. [electronic resource]
Producer: 20080918Description: 473-8 p. digitalISSN:- 1468-6244
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Brain Diseases, Metabolic, Inborn -- genetics
- Carnitine -- analogs & derivatives
- Child
- Child, Preschool
- Cohort Studies
- DNA -- chemistry
- Female
- Humans
- Infant
- Male
- Mitochondrial Proteins -- genetics
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Nucleocytoplasmic Transport Proteins -- genetics
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide
- Sequence Alignment
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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