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Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

โœ Scribed by Liu, Wanguo; Qian, Chiping; Francke, Uta


Book ID
109916740
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
256 KB
Volume
16
Category
Article
ISSN
1061-4036

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Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr