Article
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Human mutation - 1 Sept 2003
Collod-Béroud Gwenaëlle, Le Bourdelles Saga, Ades Lesley, Ala-Kokko Leena, Booms Patrick, Boxer Maureen, Child Anne, Comeglio Paolo, De Paepe Anne, Hyland James C, Holman Katerine, Kaitila Ilkka, Loeys Bart, Matyas Gabor, Nuytinck Lieve, Peltonen Leena, Rantamaki Terhi, Robinson Peter, Steinmann Beat, Junien Claudine, Béroud Christophe, Boileau Catherine
Abstract excerpt
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS, called "type-1 fibrillinopathies." In 1995, in an effort to standardize the information regarding...
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