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Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

BACKGROUND: There are several known autosomal genes responsible for Ras/MAPK pathway syndromes, including Noonan syndrome (NS) and related disorders (such as LEOPARD, neurofibromatosis type 1), although mutations of these genes do not explain all cases. Due to the important role played by the mitoch...

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Detalles Bibliográficos
Autores principales: Gómez-Carballa, Alberto, Cerezo, María, Balboa, Emilia, Heredia, Claudia, Castro-Feijóo, Lidia, Rica, Itxaso, Barreiro, Jesús, Eirís, Jesús, Cabanas, Paloma, Martínez-Soto, Isabel, Fernández-Toral, Joaquín, Castro-Gago, Manuel, Pombo, Manuel, Carracedo, Ángel, Barros, Francisco, Salas, Antonio
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079712/
https://www.ncbi.nlm.nih.gov/pubmed/21526175
http://dx.doi.org/10.1371/journal.pone.0018348