Readthrough of dystrophin stop codon mutations induced by aminoglycosides
β Scribed by Michael T. Howard; Christine B. Anderson; Uwe Fass; Shikha Khatri; Raymond F. Gesteland; John F. Atkins; Kevin M. Flanigan
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 119 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract ## Background The most common form of congenital muscular dystrophy is caused by a deficiency in the Ξ±2 chain of lamininβ211, a protein of the extracellular matrix. A wide variety of mutations, including 20 to 30% of nonsense mutations, have been identified in the corresponding gene, _
We have developed a novel strategy for screening families with type 1 Stickler syndrome due to COL2A1 nonsense mutations, using a modified RNA-based protein truncation test. To overcome the problem of the unavailability of collagen II-producing cartilage cells, reverse transcription polymerase chain