Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot
✍ Scribed by Manuela Sironi,Uberto Pozzoli,Rachele Cagliani,Roberto Giorda…
- Book ID
- 113043592
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 447 KB
- Volume
- 112
- Category
- Article
- ISSN
- 0340-6717
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We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the exons. Most of the alterations (87%) were clustered in exons 44-52,
Duplicated sequences within hisM, a gene coding for a membrane-bound component of histidine transport, result in frequent deletions which, being in frame, allow production of an altered protein with apparent changed specificity of transport. While the wild-type transport system does not transport L-