Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Zhang, Michael Y, Churpek, Jane E, Keel, Siobán B, Walsh, Tom, Lee, Ming K, Loeb, Keith R, Gulsuner, Suleyman, Pritchard, Colin C, Sanchez-Bonilla, Marilyn, Delrow, Jeffrey J, Basom, Ryan S, Forouhar, Melissa, Gyurkocza, Boglarka, Schwartz, Bradford S, Neistadt, Barbara, Marquez, Rafael, Mariani, Christopher J, Coats, Scott A, Hofmann, Inga, Lindsley, R Coleman, Williams, David A, Abkowitz, Janis L, Horwitz, Marshall S, King, Mary-Claire, Godley, Lucy A, Shimamura, Akiko
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4540357/
https://ncbi.nlm.nih.gov/pubmed/25581430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3177
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados