Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome (MFS), an autosomal dominant heritable disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system. FBN1 mutations have also been identified in a series of related disorders of conne
✦ LIBER ✦
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome
✍ Scribed by Meike Rybczynski; Alexander M.J. Bernhardt; Uwe Rehder; Bettina Fuisting; Ludwig Meiss; Ursula Voss; Christian Habermann; Christian Detter; Peter N. Robinson; Mine Arslan-Kirchner; Jörg Schmidtke; Thomas S. Mir; Jürgen Berger; Thomas Meinertz; Yskert von Kodolitsch
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 180 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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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
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