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

Gwenaëlle 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; Catherine Boileau

doi:10.1093/nar/25.1.147

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

Gwenaëlle 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, Catherine Boileau

Research output: Contribution to journal › Article › peer-review

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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. 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.

Original language	English (US)
Pages (from-to)	147-150
Number of pages	4
Journal	Nucleic acids research
Volume	25
Issue number	1
DOIs	https://doi.org/10.1093/nar/25.1.147
State	Published - Jan 1 1997

ASJC Scopus subject areas

Genetics

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Collod-Béroud, G., Béroud, C., Adès, L., Black, C., Boxer, M., Brock, D. J., Godfrey, M., Hayward, C., Karttunen, L., Milewicz, D., Peltonen, L., Richards, R. I., Wang, M., Junien, C., & Boileau, C. (1997). Marfan Database (second edition): Software and database for the analysis of mutations in the human FBN1 gene. Nucleic acids research, 25(1), 147-150. https://doi.org/10.1093/nar/25.1.147

Collod-Béroud, G, Béroud, C, Adès, L, Black, C, Boxer, M, Brock, DJ, Godfrey, M, Hayward, C, Karttunen, L, Milewicz, D, Peltonen, L, Richards, RI, Wang, M, Junien, C & Boileau, C 1997, 'Marfan Database (second edition): Software and database for the analysis of mutations in the human FBN1 gene', Nucleic acids research, vol. 25, no. 1, pp. 147-150. https://doi.org/10.1093/nar/25.1.147

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title = "Marfan Database (second edition): Software and database for the analysis of mutations in the human FBN1 gene",

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. 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.",

author = "Gwena{\"e}lle Collod-B{\'e}roud and Christophe B{\'e}roud and Lesley Ad{\`e}s and Cheryl Black and Maureen Boxer and Brock, {David J.} and Maurice Godfrey and Carolyne Hayward and Leena Karttunen and Dianna Milewicz and Leena Peltonen and Richards, {Robert I.} and Mei Wang and Claudine Junien and Catherine Boileau",

note = "Funding Information: This work was supported by grants from GREG (Groupe de Recherche et d{\textquoteright}Etude du G{\'e}nome), Fondation de France, Recherche Clinique-Assistance Publique H{\^o}pitaux de Paris (Grant CRC940116), AFM (Association Fran{\c c}aise contre les Myopathies), Universit{\'e} Ren{\'e} Descartes-Paris V, Minist{\`e}re de l{\textquoteright}Education Nationale, de l{\textquoteright}Enseignement Sup{\'e}rieur, de la Recherche et de l{\textquoteright}Insertion Professionnelle (ACC-SV2) and Facult{\'e} de M{\'e}decine Necker. G.C. is supported by a grant from Soci{\'e}t{\'e} de Secours des Amis des Sciences.",

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AU - Milewicz, Dianna

AU - Peltonen, Leena

AU - Richards, Robert I.

AU - Wang, Mei

AU - Junien, Claudine

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N2 - 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, 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.

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

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