De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL
Nat Genet. 1997 15 (1): 74-7

PMID: 8988172 · DOI:10.1038/ng0197-74

MeSH Terms (17)

Angelman Syndrome Chromosome Mapping Chromosomes, Human, Pair 15 Cloning, Molecular DNA, Complementary DNA Mutational Analysis Female Frameshift Mutation Genomic Imprinting Humans Ligases Male Molecular Sequence Data Mutation Sequence Deletion Ubiquitin-Protein Ligases Ubiquitins

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