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Nature Genetics 40, 931–932 (1 August 2008) | doi:10.1038/ng0808-931
Dark skin mutations shed light on inherited anemia
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Abstract
Children with the human pediatric disease Diamond-Blackfan anemia (DBA) fail to make red blood cells and carry mutations in one copy of any of several genes encoding ribosomal proteins, which are essential components of the protein synthesis machinery. Haploinsufficiency for individual ribosomal protein genes causing defective ribosome biogenesis is the most likely cause of the disease.
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