Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

Studies of allelic variation underlying genetic blood disorders have provided important insights into human hematopoiesis. Most often, the identified pathogenic mutations result in loss-of-function or missense changes. However, assessing the pathogenicity of noncoding variants can be challenging. He...

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Detalles Bibliográficos
Autores principales: Abdulhay, Nour J., Fiorini, Claudia, Verboon, Jeffrey M., Ludwig, Leif S., Ulirsch, Jacob C., Zieger, Barbara, Lareau, Caleb A., Mi, Xiaoli, Roy, Anindita, Obeng, Esther A., Erlacher, Miriam, Gupta, Namrata, Gabriel, Stacey B., Ebert, Benjamin L., Niemeyer, Charlotte M., Khoriaty, Rami N., Ancliff, Philip, Gazda, Hanna T., Wlodarski, Marcin W., Sankaran, Vijay G.
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/PMC6504223/
https://www.ncbi.nlm.nih.gov/pubmed/30914438
http://dx.doi.org/10.1084/jem.20181625

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