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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Bibliografiske detaljer

Udgivet i:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	Oxford University Press 1997
Fag:	Research Article
Online adgang:	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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