Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Nature

Volumn 376, Issue 6538, 1995, Pages 348-351

  Petrif, Fred ^a   Giles, Rachel H ^a   Dauwerse, Hans G ^a   Saris, Jasper J ^a   Hennekam, Raoul C M ^b   Masuno, Mitsuo ^c   Tommerup, Niels ^d,e   van Ommen, Gert Jan B ^a   Goodman, Richard H ^f   Peters, Dorien J M ^a   Breuning, Martijn H ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d JOHN F KENNEDY INSTITUTE   (Denmark)

^e ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; CHROMOSOME 16P; CHROMOSOME BREAKAGE; DEVELOPMENTAL DISORDER; GENE MUTATION; HUMAN; POINT MUTATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE, TRANSFORMED; CHROMOSOME WALKING; CHROMOSOMES, HUMAN, PAIR 16; COSMIDS; DNA; FEMALE; HETEROZYGOTE; HUMAN; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEDIGREE; POINT MUTATION; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE DELETION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; TRANSCRIPTION FACTORS; TRANSLOCATION (GENETICS);

EID: 0029022770     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/376348a0     Document Type: Article

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