Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

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dc.contributor.authorCollod-Beroud, G.
dc.contributor.authorBeroud, C.
dc.contributor.authorAdes, L.
dc.contributor.authorBlack, C.
dc.contributor.authorBoxer, M.
dc.contributor.authorBrock, D.
dc.contributor.authorGodfrey, M.
dc.contributor.authorHayward, C.
dc.contributor.authorKarttunen, L.
dc.contributor.authorMilewicz, D.
dc.contributor.authorPeltonen, L.
dc.contributor.authorRichards, R.
dc.contributor.authorWang, M.
dc.contributor.authorJunien, C.
dc.contributor.authorBoileau, C.
dc.date.issued1997
dc.description.abstractFibrillin 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, generally non-recurrent and widely distributed throughout the gene. To date no clear genotype/phenotype relationship has been observed excepted for the localization of neonatal mutations in a cluster between exons 24 and 32. The second version of the computerized Marfan database contains 89 entries. The software has been modified to accomodate new functions and routines.
dc.description.statementofresponsibilityGwenaëlle Collod-Béroud, Christophe Béroud, Lesley Adès, Cheryl Black, Maureen Boxer, David J. Brock, Maurice Godfrey, Carolyne Hayward, Leena Karttunen, Dianna Milewicz, Leena Peltonen, Robert I. Richards, Mei Wang, Claudine Junien, and Catherine Boileau.
dc.identifier.citationNucleic Acids Research (NAR), 1997; 25(1):147-150
dc.identifier.doi10.1093/nar/25.1.147
dc.identifier.issn0305-1048
dc.identifier.issn1362-4962
dc.identifier.urihttp://hdl.handle.net/2440/11495
dc.language.isoen
dc.publisherOXFORD UNIV PRESS
dc.rightsInformation that is created by or for the US government on this site is within the public domain. Public domain information on the National Library of Medicine (NLM) Web pages may be freely distributed and copied. However, it is requested that in any subsequent use of this work, NLM be given appropriate acknowledgment.
dc.source.urihttps://doi.org/10.1093/nar/25.1.147
dc.subjectFibrillin
dc.subjectMarfan syndrome and type 1 fibrillinopathies
dc.titleMarfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
dc.typeJournal article
pubs.publication-statusPublished

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