Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

Clicks: 94
ID: 273651
2019
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Abstract
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, ...
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Authors Lara Rodriguez-Laguna, Noelia Agra, Kristina Ibañez, Gloria Oliva-Molina, Gema Gordo, Noor Khurana, Devon Hominick, María Beato, Isabel Colmenero, Gonzalo Herranz, Juan M. Torres Canizalez, Rebeca Rodríguez Pena, Elena Vallespín, Rubén Martín-Arenas, Ángela del Pozo, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Pablo Lapunzina, Juan C. Lopez-Gutierrez, Michael T. Dellinger, Victor Martinez-Glez;Lara Rodriguez-Laguna;Noelia Agra;Kristina Ibañez;Gloria Oliva-Molina;Gema Gordo;Noor Khurana;Devon Hominick;María Beato;Isabel Colmenero;Gonzalo Herranz;Juan M. Torres Canizalez;Rebeca Rodríguez Pena;Elena Vallespín;Rubén Martín-Arenas;Ángela del Pozo;Cristina Villaverde;Ana Bustamante;Carmen Ayuso;Pablo Lapunzina;Juan C. Lopez-Gutierrez;Michael T. Dellinger;Victor Martinez-Glez;
Journal The Journal of experimental medicine
Year 2019
DOI
10.1084/jem.20181353
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