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Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide.

Authors :
Buzin, Carolyn H.
Jinong Feng
Jin Yan
Scaringe, William
Qiang Liu
Den Dunnen, Johan
Mendell, Jerry R.
Sommer, Steve S.
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