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The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update
Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated...
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| Izdano u: | Hum Mutat |
|---|---|
| Glavni autori: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2010
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4485435/ https://ncbi.nlm.nih.gov/pubmed/20960466 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21383 |
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