Published in Blood Weekly, April 29th, 2010
"No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis," wrote J.Y. Sanchezlopez and colleagues.
The researchers concluded: "This frameshift mutation is predicted to result in a truncated and unstable...
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