Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of
β¦ LIBER β¦
Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site
β Scribed by Renu Tuteja; Narendra Tuteja; Franco Lilliu; Bruno Bembi; Renzo Galanello; Antonio Cao; Francisco E. Baralle
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 203 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
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