Key result
The third version of the Marfan database contains 137 entries of FBN1 gene mutations and features four new routines for mutation analysis.
The updated Marfan database provides a web-accessible tool with new routines for analyzing FBN1 gene mutations.
Updates FBN1 mutation resources with new analysis tools; extends research capabilities but leaves clinical impact unproven.
The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping disorders. The third version of the Marfan database contains 137 entries. The software has been modified to accommodate four new routines and is now accessible on the World Wide Web at http://www.umd.necker.fr
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Gwenaëlle Collod‐Béroud (1998) studied Marfan syndrome and overlapping disorders (n=137). Marfan database (third edition) was evaluated. The third version of the Marfan database contains 137 entries of FBN1 gene mutations and features four new routines for mutation analysis.
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