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FBN1 exon 2 splicing error in a patient with Marfan syndrome

✍ Scribed by Guo, Dongchuan ;Tan, Filemon K. ;Cantu, Andrea ;Plon, Sharon E. ;Milewicz, Dianna M.


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
94 KB
Volume
101
Category
Article
ISSN
0148-7299

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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