UBE3A/E6-AP mutations cause Angelman syndrome. [electronic resource]
Producer: 19970128Description: 70-3 p. digitalISSN:- 1061-4036
- Amino Acid Sequence
- Angelman Syndrome -- genetics
- Base Sequence
- Brain -- embryology
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA, Complementary
- Female
- Frameshift Mutation
- Genomic Imprinting
- Humans
- Ligases -- genetics
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Ubiquitin-Protein Ligases
- Ubiquitins -- metabolism
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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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