Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. [electronic resource]
Producer: 20020722Description: 229-31 p. digitalISSN:- 1434-5161
- Acyltransferases
- Cardiomyopathy, Dilated -- genetics
- DNA Mutational Analysis
- DNA Primers -- chemistry
- DNA-Binding Proteins -- genetics
- Glutarates -- metabolism
- Humans
- Infant
- Japan
- Male
- Muscular Diseases -- genetics
- Mutation
- Mutation, Missense -- genetics
- Neutropenia -- genetics
- Polymerase Chain Reaction
- Proteins
- Syndrome
- Transcription Factors -- genetics
- X Chromosome -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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