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• W2129643670 abstract "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 phe-notypically related to MFS and many mutations will have to be accumulated before genotype/phenotype relationships emerge. To facilitate mutational analysis of the FBN1 gene, a software package along with a computerized database (currently listing 63 entries) have been created." @default.
• W2129643670 created "2016-06-24" @default.
• W2129643670 creator A5044172352 @default.
• W2129643670 date "1996-01-01" @default.
• W2129643670 modified "2023-10-16" @default.
• W2129643670 title "Software and database for the analysis of mutations in the human FBN1 gene" @default.
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• W2129643670 doi "https://doi.org/10.1093/nar/24.1.137" @default.
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