Found 3 datasets matching "exon-deletion".
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Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in...
Search relevance: 148.73 | Views last month: 0 -
Background Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular...
Search relevance: 49.68 | Views last month: 0 -
Background SP100 is a nuclear protein that displays a number of alternative splice variants. In Old World monkeys, apes and humans one of these variants is extended by a retroprocessed...
Search relevance: 46.95 | Views last month: 1
