Article
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Human mutation - 1 Sept 2002
Katzke Stefanie, Booms Patrick, Tiecke Frank, Palz Monika, Pletschacher Angelika, Türkmen Seval, Neumann Luitgard M, Pregla Reinhard, Leitner Christa, Schramm Cornelia, Lorenz Peter, Hagemeier Christian, Fuchs Josefine, Skovby Flemming, Rosenberg Thomas, Robinson Peter N
Abstract excerpt
Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome (MFS), an autosomal dominant heritable disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system. FBN1 mutations have also been identified in a series of related disorders of connective tissue collectively termed type-1 fibrillinopathies. We have developed temperature-gradient gel...
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