- De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
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Mukherjee , Chaturvedi LS, Srivastava S, Mittal RD, Mittal B
- KMID: 1097259
- Exp Mol Med.
- 2003 Apr;35(2):113-117.
Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic... -
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- Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients
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Chaturvedi LS, Mukherjee , Srivastava S, Mittal RD, Mittal B
- KMID: 1457538
- Exp Mol Med.
- 2001 Dec;33(4):251-256.
Duchenne and Becker muscular dystrophies (D/BMD) are caused by mutations in the dystrophin gene. Two-thirds of patients have large intragenic deletions or duplications and the remaining one-third have point mutations,... -
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