Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome
β Scribed by H. Chikumi; T. Yamamoto; Y. Ohta; E. Nanba; K. Nagata; H. Ninomiya; K. Narasaki; T. Katoh; I. Hisatome; K. Ono; N. Tanaka; H. Kuroda; S. Ohgi
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 195 KB
- Volume
- 45
- Category
- Article
- ISSN
- 1435-232X
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## Communicated by Jurgen Horst Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable