TY  - GEN
AU  - Bartsch,O
AU  - Locher,K
AU  - Meinecke,P
AU  - Kress,W
AU  - Seemanová,E
AU  - Wagner,A
AU  - Ostermann,K
AU  - Rödel,G
TI  - Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
SN  - 1468-6244
PY  - 2002///0905
KW  - Acetyltransferases
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - CREB-Binding Protein
KW  - Child
KW  - Child, Preschool
KW  - Codon
KW  - DNA
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Variation
KW  - Histone Acetyltransferases
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation, Missense
KW  - Nuclear Proteins
KW  - chemistry
KW  - Protein Structure, Secondary
KW  - Rubinstein-Taybi Syndrome
KW  - diagnosis
KW  - Saccharomyces cerevisiae Proteins
KW  - Trans-Activators
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1136/jmg.39.7.496
ER  -