Mutation analysis of UBE3A in angelman syndrome patients

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1353-1360

  Malzac, Perrine ^a   Webber, Hayley ^b   Moncla, Anne ^a   Graham Jr , John M ^c   Kukolich, Mary ^d   Williams, Charles ^e   Pagon, Roberta A ^f   Ramsdell, Linda A ^f   Kishino, Tatsuya ^b   Wagstaff, Joseph ^b  

^a TIMONE HOSPITAL   (France)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d Risk Evaluation to Achieve Cardiovascular Health   (United States)

^e UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^f SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

UBIQUITIN PROTEIN LIGASE;

ARTICLE; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL ARTICLE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HAPPY PUPPET SYNDROME; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; UNIPARENTAL DISOMY;

EID: 17344362235     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301877     Document Type: Article

References (15)

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