UBE3A/E6-AP mutations cause Angelman syndrome

Nature Genetics

Volumn 15, Issue 1, 1997, Pages 70-73

  Kishino, Tatsuya ^a   Lalande, Marc ^a,b   Wagstaff, Joseph ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

UBIQUITIN;

ARTICLE; BRAIN DEVELOPMENT; CHROMOSOME 15Q; CHROMOSOME INVERSION; DELETION MUTANT; FACIAL EXPRESSION; FRAMESHIFT MUTATION; GAIT DISORDER; GENE MUTATION; HAPPY PUPPET SYNDROME; MENTAL DEFICIENCY; PRIORITY JOURNAL; PROTEIN DEGRADATION; SEIZURE; UNIPARENTAL DISOMY;

AMINO ACID SEQUENCE; ANGELMAN SYNDROME; BASE SEQUENCE; BRAIN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GENOMIC IMPRINTING; HUMANS; LIGASES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; UBIQUITIN-PROTEIN LIGASES; UBIQUITINS;

EID: 0031012849     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-70     Document Type: Article

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