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FBN1: The Disease-Causing Gene for Marfan Syndrome and Other Genetic Disorders

FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan s...

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Publicat a:Gene
Autors principals: Sakai, Lynn Y., Keene, Douglas R., Renard, Marjolijn, De Backer, Julie
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6639799/
https://ncbi.nlm.nih.gov/pubmed/27437668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2016.07.033
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