Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling of the cytoskeleton, leading to impaired platelet...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Internet

https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d

Ejemplares similares