The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review

The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review

Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein (RP) gene along with a defect in the ribosoma...

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書目詳細資料
Main Authors: Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki
格式: Article
語言:English
出版: MDPI AG 2023-11-01
叢編:Children
主題:
Diamond–Blackfan anemia
splicing
splice variants
mutation
ribosome
ribosomal proteins
在線閱讀:https://www.mdpi.com/2227-9067/10/11/1812

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https://www.mdpi.com/2227-9067/10/11/1812

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