Expansion of germline RPS20 mutation phenotype to include Diamond Blackfan anemia

Diamond Blackfan anemia (DBA) is a ribosomopathy of variable expressivity and penetrance characterized by red cell aplasia, congenital anomalies, and predisposition to certain cancers, including early onset colorectal cancer (CRC). DBA is primarily caused by a dominant mutation of a ribosomal protei...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Bhar, Saleh, Zhou, Fujun, Reineke, Lucas C., Morris, Danna K., Khincha, Payal P., Giri, Neelam, Mirabello, Lisa, Bergstrom, Katie, Lemon, Laramie D., Williams, Christopher L., Toh, Yukimatsu, Elghetany, M. Tarek, Lloyd, Richard E., Alter, Blanche P., Savage, Sharon A., Bertuch, Alison A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7857045/
https://ncbi.nlm.nih.gov/pubmed/32790018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24092
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados