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

Gwenaëlle CollodBéroud | Zendy; Christophe Béroud | Zendy; Lesley C. Adès | Zendy; Casilda G. Black | Zendy; M. Boxer | Zendy; D. J. H. Brock | Zendy; Maurice Godfrey | Zendy; Caroline Hayward | Zendy; Leena Karttunen | Zendy; D. Milewicz | Zendy; Leena Peltonen | Zendy; Robert I. Richards | Zendy; M. Wang | Zendy; Claudine Junien | Zendy; Cathérine Boileau | Zendy

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

Author(s) -

Gwenaëlle CollodBéroud,

Christophe Béroud,

Lesley C. Adès,

Casilda G. Black,

M. Boxer,

D. J. H. Brock,

Maurice Godfrey,

Caroline Hayward,

Leena Karttunen,

D. Milewicz,

Leena Peltonen,

Robert I. Richards,

M. Wang,

Claudine Junien,

Cathérine Boileau

Publication year - 1997

Publication title -

nucleic acids research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.008

H-Index - 537

eISSN - 1362-4954

pISSN - 0305-1048

DOI - 10.1093/nar/25.1.147

Subject(s) - fibrillin , missense mutation , biology , marfan syndrome , genetics , gene , phenotype , exon , mutation , database , medicine , computer science , surgery

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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