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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 base deletion that occurs at the splice site junction between intron 7 and exon 8 (c.396-397del AG); the second is an in-frame deletion of three adjacent bases (c.427-429del CAA), leading to deletion of glutamine 143. The kinetic properties of Q143del variant were not grossly altered, but the variant was very heat unstable even at physiological temperatures.

Type

Journal article

Journal

Haematologica

Publication Date

09/2006

Volume

91

Pages

1244 - 1247

Keywords

5'-Nucleotidase, Adult, Anemia, Hemolytic, Chromosome Aberrations, Family Health, Female, Frameshift Mutation, Humans, Italy, Mutation, Sequence Deletion