Article
Discrepancies between genotype and phenotype in hematology: an important frontier.
Blood - 1 Nov 2001
Beutler E
Abstract excerpt
An African American male infant with sickle cell disease has a devastating stroke; an African American soldier is surprised when he is informed that he has sickle cell disease. They are both homozygous for the same mutation. An Ashkenazi Jewish woman with Gaucher disease has a huge spleen and severe thrombocytopenia; her older brother, homozygous for the same 1226G glucocerebrosidase mutation, is found on routine...
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