Identification of 9 novel FBN1 mutations
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Alice Abd El-Aleem; Matthias Karck; Axel Haverich; JΓΆrg Schmidtke; Mine Arslan-K
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Article
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1999
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John Wiley and Sons
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English
β 20 KB
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We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by