| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10763122 | Biochemical and Biophysical Research Communications | 2011 | 6 Pages |
Abstract
⺠We evaluate splicing in FBN1, mutations in which cause Marfan syndrome. ⺠We report two FBN1 splice variants that are both predicted to produce non-functional protein. ⺠The expression of one isoform, 57A-FBN1, varies between tissues and with development. ⺠57A-FBN1 represents a significant proportion of FBN1 expression. ⺠57A-FBN1 may regulate fibrillin expression and disease severity.
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Authors
Mary E. Burchett, I-Fang Ling, Steven Estus,