The Marfan syndrome —analysis of growth and cardiovascular manifestation
✍ Scribed by U. Vetter; R. Mayerhofer; D. Lang; G. v. Bernuth; M. B. Ranke; A. A. Schmaltz
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 472 KB
- Volume
- 149
- Category
- Article
- ISSN
- 0340-6997
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📜 SIMILAR VOLUMES
## Abstract In order to evaluate the contribution of __FBN1, FBN2, TGFBR1__, and __TGFBR2__ mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 __FBN1__ mutations (22 novel) in
Mutations in the FBN1 gene have been characterised in patients affected by Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we analysed the FBN1 gene using PCR, SSCP and/or dHPLC analysis, and automatic sequencing of abnormal bands/peaks, in a consecutive series of 508 patien