Article
The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.
Nucleosides, nucleotides & nucleic acids - 1 Oct 2004
Escuredo E, Marinaki A M, Duley J A, Thein S L, Rees D C
Abstract excerpt
We have previously described a family in which the interaction between pyrimidine 5' nucleotidase I (P5N-I) deficiency and hemoglobin E resulted in severe haemolytic anaemia. In this study we explored the genetic basis of the severe clinical phenotype and look for evidence of the interaction between these conditions. A P5N-I gene mutation (IVS8 + 1-2delGT) was found in the family, confirming that the severe...
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