Article
Hb Lansing (HBA2: c.264C > G) and a new β promoter transversion [-52 (G > T)]: an attempt to define the phenotype of two mutations found in the Omani population.
Hemoglobin - 1 Jan 2015
Hassan Suha M, Harteveld Cornelis L, Bakker Engbert, Giordano Piero C
Abstract excerpt
We report two examples showing how problematic it can be to define the phenotype of new or rare globin genes mutations. We describe two mutations observed for the first time in the Omani population: the first was found in the consanguineous parents of a deceased newborn with hepatomegaly, cardiom...
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