Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1. [electronic resource]
Producer: 19910304Description: 342-50 p. digitalISSN:- 0002-9297
- Acyltransferases -- genetics
- Alleles
- Autoradiography
- Blotting, Southern
- Blotting, Western
- Cells, Cultured
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Humans
- Maple Syrup Urine Disease -- genetics
- Mutation
- Nucleic Acids -- analysis
- Pedigree
- Polymerase Chain Reaction
- Restriction Mapping
- Transcription, Genetic
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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