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Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFβ receptor in Caenorhabditis elegans

The transforming growth factor-β (TGFβ) family plays an important role in many developmental processes and when mutated often contributes to various diseases. Marfan syndrome is a genetic disease with an occurrence of approximately 1 in 5,000. The disease is caused by mutations in fibrillin, which l...

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Publicat a:PLoS One
Autors principals: Lin, Jing, Vora, Mehul, Kane, Nanci S., Gleason, Ryan J., Padgett, Richard W.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6508650/
https://ncbi.nlm.nih.gov/pubmed/31071172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0216628
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