TY - JOUR
T1 - Marfan Database (second edition)
T2 - Software and database for the analysis of mutations in the human FBN1 gene
AU - Collod-Béroud, Gwenaëlle
AU - Béroud, Christophe
AU - Adès, Lesley
AU - Black, Cheryl
AU - Boxer, Maureen
AU - Brock, David J.
AU - Godfrey, Maurice
AU - Hayward, Carolyne
AU - Karttunen, Leena
AU - Milewicz, Dianna
AU - Peltonen, Leena
AU - Richards, Robert I.
AU - Wang, Mei
AU - Junien, Claudine
AU - Boileau, Catherine
N1 - Funding Information:
This work was supported by grants from GREG (Groupe de Recherche et d’Etude du Génome), Fondation de France, Recherche Clinique-Assistance Publique Hôpitaux de Paris (Grant CRC940116), AFM (Association Française contre les Myopathies), Université René Descartes-Paris V, Ministère de l’Education Nationale, de l’Enseignement Supérieur, de la Recherche et de l’Insertion Professionnelle (ACC-SV2) and Faculté de Médecine Necker. G.C. is supported by a grant from Société de Secours des Amis des Sciences.
PY - 1997/1/1
Y1 - 1997/1/1
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.
AB - 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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U2 - 10.1093/nar/25.1.147
DO - 10.1093/nar/25.1.147
M3 - Article
C2 - 9016526
AN - SCOPUS:1842336810
VL - 25
SP - 147
EP - 150
JO - Nucleic Acids Research
JF - Nucleic Acids Research
SN - 0305-1048
IS - 1
ER -