Clinical utility gene card for: Diamond-Blackfan anemia--update 2013
- PMID: 23463023
- PMCID: PMC3778360
- DOI: 10.1038/ejhg.2013.34
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013
References
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- Gazda HT, Zhong R, Long L, et al. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol. 2004;127:105–113. - PubMed
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- Draptchinskaia N, Gustavsson P, Andersson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21:169–175. - PubMed
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