Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome

European Journal of Human Genetics

Volumn 15, Issue 8, 2007, Pages 837-842

  Zimmermann, Nicole ^a   Ferrer Acosta, Ana Maria Bravo ^b   Kohlhase, Jürgen ^b   Bartsch, Oliver ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN; HISTONE ACETYLTRANSFERASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; QUANTITATIVE ANALYSIS; RANK SUM TEST; RUBINSTEIN SYNDROME; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; E1A-ASSOCIATED P300 PROTEIN; FEMALE; HUMANS; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME;

EID: 34547169962     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201791     Document Type: Article

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