Patterns of deletions of the dystrophin gene in different European populations
✍ Scribed by Gian Antonio Danieli; Federico Mioni; Clemens R. Müller; Libero Vitiello; Maria Luisa Mostacciuolo; Tiemo Grimm
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 432 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0340-6717
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We studied 160 cases of Duchenne muscular dystrophy (DMD) drawn from all parts of India, using multiplex PCR of 27 exons. Of these, 103 (64.4%) showed intragenic deletions. Most (69.7%) of the deletions involved exons 45-51. The phenotype of cases with deletion of single exons did not differ signifi
Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD) and Becker muscular dystrophy (BMD). However, there are problems in resolving these issues partly because not all mutations can as yet be direc
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