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New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
- Source :
-
Clinical genetics [Clin Genet] 2013 Mar; Vol. 83 (3), pp. 291-2. Date of Electronic Publication: 2012 May 17. - Publication Year :
- 2013
- Subjects :
- Adolescent
Adult
Base Sequence
Brazil
CREB-Binding Protein
Child
Child, Preschool
Chromosomes, Human, Pair 16 genetics
Chromosomes, Human, Pair 2 genetics
Codon, Nonsense
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Mutation, Missense
Polymorphism, Single Nucleotide
Rubinstein-Taybi Syndrome pathology
Sequence Deletion
Translocation, Genetic
Young Adult
Mutation
Rubinstein-Taybi Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 83
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Editorial & Opinion
- Accession number :
- 22591219
- Full Text :
- https://doi.org/10.1111/j.1399-0004.2012.01894.x