Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
Bartsch
O
O
Locher
K
K
Meinecke
P
P
Kress
W
W
Seemanová
E
E
Wagner
A
A
Ostermann
K
K
Rödel
G
G
D000123:Acetyltransferases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D050882:CREB-Binding Protein; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D051548:Histone Acetyltransferases; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D017433:Protein Structure, Secondary / Q000235:genetics; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins; D015534:Trans-Activators / Q000737:chemistry / Q000235:genetics*
D003062:Codon; D009687:Nuclear Proteins; D029701:Saccharomyces cerevisiae Proteins; D015534:Trans-Activators; D004247:DNA; D000123:Acetyltransferases; D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D051548:Histone Acetyltransferases