Article
FBN1 exon 2 splicing error in a patient with Marfan syndrome.
American journal of medical genetics - 15 Jun 2001
Guo D, Tan F K, Cantu A, Plon S E, Milewicz D M
Abstract excerpt
Mutations in FBN1 cause the autosomal dominant condition, Marfan syndrome. A single-base mutation that results in a skipping of exon 2 of FBN1 was found in a Marfan patient. By sequencing this proband's entire FBN1 gene and comparing the mutated DNA sequence with proband's unaffected family numbers, we confirmed this alteration was the causative mutation. The skipping of exon 2 creates a frameshift and premature...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.