Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. [electronic resource]
Producer: 20080403Description: 179-89 p. digitalISSN:- 1096-7206
- Abnormalities, Multiple -- enzymology
- Adolescent
- Adult
- Alleles
- Animals
- Base Sequence
- Butyryl-CoA Dehydrogenase -- deficiency
- Child
- Child, Preschool
- DNA Primers -- genetics
- Female
- Founder Effect
- Heterozygote
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Jews -- genetics
- Male
- Metabolism, Inborn Errors -- enzymology
- Mice
- Muscular Diseases -- enzymology
- Phenotype
- Point Mutation
- Recombinant Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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