Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder.
Inherited pyrimidine 5'-nucleotidase type-1 (P5'N-1) deficiency is the most frequent abnormality of red cell nucleotide metabolism causing non-spherocytic hemolytic anemia. We describe two novel mutations in two Italian patients affected by P5'N-1 deficiency. One mutation is a two bas...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2006
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