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

Identifieur interne : 00C908 ( Main/Exploration ); précédent : 00C907; suivant : 00C909

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

Auteurs : Gwenaëlle Collod-Béroud [France] ; Christophe Béroud [France] ; Lesley Ades [Australie] ; Cheryl Black [Royaume-Uni] ; Maureen Boxer [Royaume-Uni] ; David J. H. Brock [Royaume-Uni] ; Katherine J. Holman [Australie] ; Anne De Paepe [Royaume-Uni] ; Uta Francke [États-Unis] ; Ulrich Grau [Allemagne] ; Caroline Hayward [Royaume-Uni] ; Hanns-Georg Klein [Allemagne] ; Wanguo Liu [États-Unis] ; Lieve Nuytinck [Belgique] ; Leena Peltonen [Finlande] ; Ana Beatriz Alvarez Perez [Brésil] ; Terhi Rantam Ki [Finlande] ; Claudine Junien [France] ; Catherine Boileau [France]

Source :

RBID : ISTEX:57CE7068DE907B101B40129ED729F4FDA9112817

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

Url:
DOI: 10.1093/nar/26.1.229


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

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<div type="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</div>
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