Nucleic Acids Research · 1998 · 109 citations · 40 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsGenetic DisordersMendelian DisordersMutation AnalysisRare Disease GeneticsSingle-gene DisordersVariant InterpretationInherited Disease DiagnosisMarfan Syndrome GeneticsPopulation Reference Databases
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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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations
Revised diagnostic criteria for the Marfan syndrome
Anne De Paepe, Richard B. Devereux, Harry C. Dietz et al. · American Journal of Medical Genetics · 1996 · 1.6K citations
The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations
Harry C. Dietz, David Valle, Clair A. Francomano et al. · Science · 1993 · 432 citations