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Marfan Database (third edition): new mutations and new routines for the software.

Abstract : 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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https://www.hal.inserm.fr/inserm-00143200
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Wednesday, December 20, 2017 - 7:00:08 PM
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  • HAL Id : inserm-00143200, version 1
  • PUBMED : 9399842

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Gwenaëlle Collod-Béroud, Christophe Béroud, Lesley Ades, Cheryl Black, Maureen Boxer, et al.. Marfan Database (third edition): new mutations and new routines for the software.. Nucleic Acids Research, Oxford University Press, 1998, 26 (1), pp.229-3. ⟨inserm-00143200⟩

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