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Pearson syndrome in a Diamond-Blackfan anemia cohort

In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gen...

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Библиографические подробности
Главный автор: Alter, Blanche P.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Hematology 2014
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102705/
https://ncbi.nlm.nih.gov/pubmed/25035146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-04-571687
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