Marfan Database (third edition): new mutations and new routines for the software
نویسندگان
چکیده
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
منابع مشابه
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. These mutations are private, essentially missense, general...
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عنوان ژورنال:
- Nucleic acids research
دوره 26 1 شماره
صفحات -
تاریخ انتشار 1998