Article
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.
Human mutation - 1 Dec 2007
Sheen Campbell R, Jewell Ursula R, Morris Christine M, Brennan Stephen O, Férec Claude, George Peter M, Smith Mark P, Chen Jian-Min
Abstract excerpt
Genomic rearrangements are a well-recognized cause of genetic disease and can be formed by a variety of mechanisms. We report a complex rearrangement causing severe hemophilia A, identified and further characterized using a range of PCR-based methods, and confirmed using array-comparative genomic hybridization (array-CGH). This rearrangement consists of a 15.5-kb deletion/16-bp insertion located 0.6 kb from a...
Topics
- Adolescent
- Antigens, Neoplasm
- Base Sequence
- Chromosomes, Human, X
- DNA Mutational Analysis
- DNA-Binding Proteins
- Factor VIII
- Gene Duplication
- Heat Shock Transcription Factors
- Heat-Shock Proteins