Article
Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
Journal of medical genetics - 1 Nov 1996
Roest P A, Bout M, van der Tuijn A C, Ginjaar I B, Bakker E, Hogervorst F B, van Ommen G J, den Dunnen J T
Abstract excerpt
We have used an RNA based mutation detection method to screen the total coding region of the dystrophin gene of a Duchenne and a Becker muscular dystrophy patient in whom DNA based mutation detection methods have so far failed to detect mutations. By RT-PCR and the protein truncation test (PTT) w...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- Cell Differentiation
- Child
- Cysteine
- DNA Transposable Elements
- Dystrophin
- Female
- Fibroblasts
- Heterozygote
- Humans
- Male
- Molecular Sequence Data