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

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 con...

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Publicado no:Nucleic Acids Res
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC146361/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9016526/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/25.1.147
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