The spectrum of mutations in UBE3A causing Angelman syndrome

Human Molecular Genetics

Volumn 8, Issue 1, 1999, Pages 129-135

  Fang, Ping ^a   Lev Lehman, Efrat ^a   Tsai, Ting Fen ^a   Matsuura, Toshinobu ^a,h   Benton, Claudia S ^a   Sutcliffe, James S ^a,i   Christian, Susan L ^b   Kubota, Takeo ^c   Halley, Dicky J ^d   Meijers Heijboer, Hanne ^d   Langlois, Sylvie ^e   Graham Jr , John M ^f   Beuten, Joke ^g   Willems, Patrick J ^g   Ledbetter, David H ^b   Beaudet, Arthur L ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c SHINSHU UNIVERSITY   (Japan)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f CEDARS SINAI MEDICAL CENTER   (United States)

^g UNIVERSITY OF ANTWERP   (Belgium)

^h KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

ⁱ VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 15Q; DNA METHYLATION; GENE LOCUS; GENE MUTATION; HAPPY PUPPET SYNDROME; HIPPOCAMPUS; HUMAN; INTRON; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PURKINJE CELL; STOP CODON; UNIPARENTAL DISOMY;

ANGELMAN SYNDROME; ANIMALS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; GENETIC COUNSELING; GENOMIC IMPRINTING; HUMANS; LIGASES; MALE; MICE; MUTATION; PEDIGREE; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES; VARIATION (GENETICS);

EID: 0032939631     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.1.129     Document Type: Article

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