Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
Bartsch, O
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. [electronic resource] - Journal of medical genetics Jul 2002 - 496-501 p. digital
Publication Type: Case Reports; Letter
1468-6244
10.1136/jmg.39.7.496 doi
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
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. [electronic resource] - Journal of medical genetics Jul 2002 - 496-501 p. digital
Publication Type: Case Reports; Letter
1468-6244
10.1136/jmg.39.7.496 doi
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