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Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells

Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the gene coding for FIBRILLIN-1 (FBN1), an extracellular matrix protein. MFS is inherited as an autosomal dominant trait and displays major manifestations in the ocular, skeletal, and cardiovascular systems. Here...

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Detalhes bibliográficos
Main Authors: Quarto, Natalina, Leonard, Brian, Li, Shuli, Marchand, Melanie, Anderson, Erica, Behr, Barry, Francke, Uta, Reijo-Pera, Renee, Chiao, Eric, Longaker, Michael T.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3252902/
https://ncbi.nlm.nih.gov/pubmed/22178754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1113442109
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