形式 |
This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.
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復(fù)溶 |
Cardiovascular manifestations in men and women carrying a FBN1 mutation. D?taint D, et al. Eur Heart J, 2010 Sep. PMID 20709720.Variation at the NFATC2 Locus Increases the Risk of Thiazolinedinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study. Bailey SD, et al. Diabetes Care, 2010 Jul 13. PMID 20628086.A Japanese-specific allele in the GALNT11 gene. Yuasa I, et al. Leg Med (Tokyo), 2010 Jul. PMID 20547088.Impact of genomic polymorphism on arterial hypertension after aortic coarctation repair. Hager A, et al. Int J Cardiol, 2010 May 26. PMID 20537417.A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample. Djurovic S, et al. J Affect Disord, 2010 Oct. PMID 20451256.
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