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

Nature Genetics

Volumn 15, Issue 1, 1997, Pages 74-77

  Matsuura, Toshinobu ^a,b   Sutcliffe, James S ^a   Fang, Ping ^a   Galjaard, Robert Jan ^a   Jiang, Yong Hui ^a   Benton, Claudia S ^a   Rommens, Johanna M ^c   Beaudet, Arthur L ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; LIGASE; UBIQUITIN;

ALLELE; ARTICLE; CHROMOSOME 15Q; CHROMOSOME DELETION; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE MAPPING; GENETIC DISORDER; HAPPY PUPPET SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

ANGELMAN SYNDROME; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GENOMIC IMPRINTING; HUMANS; LIGASES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE DELETION; UBIQUITIN-PROTEIN LIGASES; UBIQUITINS;

EID: 0031031570     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-74     Document Type: Article

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