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Science News for July 14, 2002


Making sense of Marfan syndrome

A recent study reveals that mutations in the FBN1 gene can cause Marfan syndrome by disrupting an exonic splicing enhancer, leading to exon skipping and compromised fibrillin protein activity. This understanding may help explain other human diseases associated with exon skipping.

SourceCold Spring Harbor Laboratory·JournalGenes & Development·DateJul 14, 2002