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

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...

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Veröffentlicht in:	Nucleic acids research 1998-01, Vol.26 (1), p.229-233
Hauptverfasser:	Collod-Béroud, Gwenaëlle, Béroud, Christophe, Ades, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J. H., Holman, Katherine J., de Paepe, Anne, Francke, Uta, Grau, Ulrich, Hayward, Caroline, Klein, Hanns-Georg, Liu, Wanguo, Nuytinck, Lieve, Peltonen, Leena, Perez, Ana Beatriz Alvarez, Rantamäki, Terhi, Junien, Claudine, Boileau, Catherine
Format:	Artikel
Sprache:	eng
Schlagworte:	Biochemistry, Molecular Biology Bioinformatics Cardiology and cardiovascular system Computer Communication Networks Computer Science Databases, Factual DNA Mutational Analysis Fibrillin-1 Fibrillins Genetics Human health and pathology Humans Life Sciences Marfan Syndrome Marfan Syndrome - genetics Microfilament Proteins Microfilament Proteins - genetics Molecular biology Mutation Software
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Beschreibung
Zusammenfassung:	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
ISSN:	0305-1048 1362-4962 1362-4962
DOI:	10.1093/nar/26.1.229