Coupry, Isabelle

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. [electronic resource] - Human mutation Mar 2004 - 278-84 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Validation Study

1098-1004

10.1002/humu.20001 doi


CREB-Binding Protein
Computer Systems
Exons--genetics
Female
Gene Deletion
Gene Dosage
Genetic Markers--genetics
Heterozygote
Humans
Male
Microsatellite Repeats--genetics
Nuclear Proteins--genetics
Phenotype
Polymerase Chain Reaction--methods
Rubinstein-Taybi Syndrome--genetics
Trans-Activators--genetics