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- W2964947101 abstract "Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5 (RPL5). Considering previously reported cases together with our patient, we suggest that RPL5 haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations." @default.
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- W2964947101 date "2019-08-08" @default.
- W2964947101 modified "2023-10-12" @default.
- W2964947101 title "Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5" @default.
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- W2964947101 doi "https://doi.org/10.1038/s41439-019-0067-5" @default.
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