Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization
✍ Scribed by Giliberto, Florencia; Radic, Claudia Pamela; Luce, Leonela; Ferreiro, Verónica; de Brasi, Carlos; Szijan, Irene
- Book ID
- 122272156
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 494 KB
- Volume
- 336
- Category
- Article
- ISSN
- 0022-510X
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We present the results of an international collaborative study aimed at estimating the ratio of male to female mutation rates in Duchenne muscular dystrophy based on the method of C. Müller and T. Grimm. With a sample size of 295, this ratio is found to be very close to 1, thus giving evidence for e
The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA) n repeat polymorphisms in and around the deleted region showed the prob