Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We identified four distinct somatic PIK3CA variants (Glu542Lys, Gln546Lys, His1047Arg, and His1047Leu) in tissue samples from fiv...

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Detalles Bibliográficos
Autores principales: Rodriguez-Laguna, Lara, Agra, Noelia, Ibañez, Kristina, Oliva-Molina, Gloria, Gordo, Gema, Khurana, Noor, Hominick, Devon, Beato, María, Colmenero, Isabel, Herranz, Gonzalo, Torres Canizalez, Juan M., Rodríguez Pena, Rebeca, Vallespín, Elena, Martín-Arenas, Rubén, del Pozo, Ángela, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Lapunzina, Pablo, Lopez-Gutierrez, Juan C., Dellinger, Michael T., Martinez-Glez, Victor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363432/
https://www.ncbi.nlm.nih.gov/pubmed/30591517
http://dx.doi.org/10.1084/jem.20181353

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