Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD...

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Hlavní autoři: Rauen, Katherine A., Schoyer, Lisa, McCormick, Frank, Lin, Angela E., Allanson, Judith E., Stevenson, David A., Gripp, Karen W., Neri, Giovanni, Carey, John C., Legius, Eric, Tartaglia, Marco, Schubbert, Suzanne, Roberts, Amy E., Gelb, Bruce D., Shannon, Kevin, Gutmann, David H., McMahon, Martin, Guerra, Carmen, Fagin, James A., Yu, Benjamin, Aoki, Yoko, Neel, Ben G., Balmain, Allan, Drake, Richard R., Nolan, Garry P., Zenker, Martin, Bollag, Gideon, Sebolt-Leopold, Judith, Gibbs, Jackson B., Silva, Alcino J., Patton, E. Elizabeth, Viskochil, David H., Kieran, Mark W., Korf, Bruce R., Hagerman, Randi J., Packer, Roger J., Melese, Teri
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4051786/
https://ncbi.nlm.nih.gov/pubmed/20014119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33183
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