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

Publikation: Beitrag in Fachzeitschrift › Kurzartikel (Letter) / Leserbrief mit Originaldaten › Beigetragen › Begutachtung

Beitragende

Acetyltransferases/genetics, Adolescent, Adult, CREB-Binding Protein, Child, Child, Preschool, Codon/genetics, DNA/genetics, DNA Mutational Analysis, Female, Genetic Variation/genetics, Histone Acetyltransferases, Humans, Infant, Infant, Newborn, Male, Mutation, Missense/genetics, Nuclear Proteins/chemistry, Protein Structure, Secondary/genetics, Rubinstein-Taybi Syndrome/diagnosis, Saccharomyces cerevisiae Proteins, Trans-Activators/chemistry