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Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide.
- Source :
- Human Mutation; Feb2005, Vol. 25 Issue 2, p177-188, 12p, 7 Charts, 1 Graph
- Publication Year :
- 2005
-
Abstract
- The article discusses a study on the mutation rates in the dystrophin gene in Duchenne muscular dystrophy (DMD) patients. It defines DMD as an X-linked recessive lethal disorder that mainly affects male births. In the study, the detection of virtually all mutations-SSCP (DOVAM-S) was utilized for mutation scanning. Duplication scanning was also conducted through the use of multiplex amplifiable probe hybridization (MAPH).
Details
- Language :
- English
- ISSN :
- 10597794
- Volume :
- 25
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Human Mutation
- Publication Type :
- Academic Journal
- Accession number :
- 59380821
- Full Text :
- https://doi.org/10.1002/humu.20132