PMID: 8594563Jan 1, 1996Paper

Software and database for the analysis of mutations in the human FBN1 gene

Nucleic Acids Research
G CollodC Boileau

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 phenotypically 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.

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Citations

Jun 1, 1996·Current Opinion in Genetics & Development·F Ramirez
Oct 29, 1998·Molecular Medicine Today·M W Kilpatrick, L A Phylactou
Mar 19, 2009·European Journal of Human Genetics : EJHG·Chantal StheneurCatherine Boileau
Jan 7, 2006·Nature Reviews. Cancer·Thierry SoussiChristophe Béroud
Oct 31, 2002·European Journal of Human Genetics : EJHG·Gwenaëlle Collod-Béroud, Catherine Boileau
Aug 17, 2010·European Heart Journal·Daniel P Judge
Jan 1, 1997·Nucleic Acids Research·C Béroud, T Soussi
Feb 21, 1998·Nucleic Acids Research·C Béroud, T Soussi
Feb 21, 1998·Nucleic Acids Research·G Collod-BéroudC Boileau
Feb 21, 1998·Nucleic Acids Research·C BéroudC Junien
Mar 31, 2006·Journal of Medical Genetics·P N RobinsonM Godfrey
Aug 26, 2003·Human Mutation·Gwenaëlle Collod-BéroudCatherine Boileau
Oct 16, 2007·Human Mutation·Melissa Yana FredericGwenaëlle Collod-Béroud

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