Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the RPL15 gene in 6 unrelated individuals diagnosed with DBA. Although point mutations have...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Haematologica
Main Authors: Wlodarski, Marcin W., Da Costa, Lydie, O’Donohue, Marie-Françoise, Gastou, Marc, Karboul, Narjesse, Montel-Lehry, Nathalie, Hainmann, Ina, Danda, Dominika, Szvetnik, Amina, Pastor, Victor, Paolini, Nahuel, di Summa, Franca M., Tamary, Hannah, Quider, Abed Abu, Aspesi, Anna, Houtkooper, Riekelt H., Leblanc, Thierry, Niemeyer, Charlotte M., Gleizes, Pierre-Emmanuel, MacInnes, Alyson W.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6058779/
https://ncbi.nlm.nih.gov/pubmed/29599205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.177980
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados