Article
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.
Haematologica - 1 Sept 2006
Chiarelli Laurent R, Fermo Elisa, Abrusci Patrizia, Bianchi Paola, Dellacasa Chiara M, Galizzi Alessandro, Zanella Alberto, Valentini Giovanna
Abstract excerpt
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...
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