Neurofibromin (Nf1) is required for skeletal muscle development

Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signaling. Besides neuroectodermal malformations and tumors, the skeletal system is often affected (e.g. scoliosis and long bone dysp...

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Autors principals: Kossler, Nadine, Stricker, Sigmar, Rödelsperger, Christian, Robinson, Peter N., Kim, Johnny, Dietrich, Carola, Osswald, Monika, Kühnisch, Jirko, Stevenson, David A., Braun, Thomas, Mundlos, Stefan, Kolanczyk, Mateusz
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2011
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3118757/
https://ncbi.nlm.nih.gov/pubmed/21478499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr149
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