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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Abstract : 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 these mutations and to facilitate their mutational analysis and identification of structure/function and phenotype/genotype relationships, we created a human FBN1 mutation database, UMD-FBN1. This database gives access to a software package that provides specific routines and optimized multicriteria research and sorting tools. For each mutation, information is provided at the gene, protein, and clinical levels. This tool is now a worldwide reference and is frequently used by teams working in the field; more than 220,000 interrogations have been made to it since January 1998. The database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature. The current update shows 559 entries, of which 421 are novel. UMD-FBN1 is accessible at www.umd.be/. We have also recently developed a FBN1 polymorphism database in order to facilitate diagnostics.
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https://www.hal.inserm.fr/inserm-00143263
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Wednesday, December 20, 2017 - 6:29:37 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:32 AM

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Gwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, Leena Ala-Kokko, Patrick Booms, et al.. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.. Human Mutation, Wiley, 2003, 22 (3), pp.199-208. ⟨10.1002/humu.10249⟩. ⟨inserm-00143263v2⟩

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