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...

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Библиографические подробности
Опубликовано в: :Haematologica
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Ferrata Storti Foundation 2018
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Article
Online-ссылка: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
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