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One or more keywords matched the following properties of De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

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has minor subject area list Chromosome Mapping; Chromosomes, Human, Pair 15; Cloning, Molecular; DNA Mutational Analysis; DNA, Complementary; Female; Frameshift Mutation; Genomic Imprinting; Humans; Male; Molecular Sequence Data; Sequence Deletion; Ubiquitin-Protein Ligases; Ubiquitins
information resource reference Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet. 1997 Jan; 15(1):74-7.
label De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

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  • Ubiquitin Ligase E3