Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP [3]

Journal of Medical Genetics

Volumn 39, Issue 7, 2002, Pages 496-501

  Bartsch, O ^a   Locher, K ^a   Meinecke, P ^a   Kress, W ^a   Seemanova E ^a   Wagner, A ^a   Ostermann, K ^a   Rodel G ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ADULT; ALLELISM; CHROMOSOME 16P; CLINICAL ARTICLE; CODON; FEMALE; GENE MUTATION; HUMAN; LETTER; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

ACETYLTRANSFERASES; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CODON; CREB-BINDING PROTEIN; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HISTONE ACETYLTRANSFERASES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROTEIN STRUCTURE, SECONDARY; RUBINSTEIN-TAYBI SYNDROME; SACCHAROMYCES CEREVISIAE PROTEINS; TRANS-ACTIVATORS; VARIATION (GENETICS);

EID: 0036071347     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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3. The CBP co-activator is a histone acetyltransferase
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