نتایج جستجو برای: and thereby

تعداد نتایج: 16828366  

Journal: :The London, Edinburgh, and Dublin Philosophical Magazine and Journal of Science 1882

2012
Verena Schoewel Andreas Marg Severine Kunz Tim Overkamp Romy Siegert Carrazedo Ute Zacharias Peter T. Daniel Simone Spuler

Mutations in the dysferlin gene cause the most frequent adult-onset limb girdle muscular dystrophy, LGMD2B. There is no therapy. Dysferlin is a membrane protein comprised of seven, beta-sheet enriched, C2 domains and is involved in Ca(2+)dependent sarcolemmal repair after minute wounding. On the protein level, point mutations in DYSF lead to misfolding, aggregation within the endoplasmic reticu...

Journal: :The London, Edinburgh, and Dublin Philosophical Magazine and Journal of Science 1882

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