Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′‐nucleotidase deficiency - Bianchi, Paola; Fermo, Elisa; Alfinito, Fiorella; Vercellati, Cristina; Baserga, Mariangiola; Ferraro, Filomena; Guzzo, Immacolata; Rotoli, Bruno; Zanella, Alberto (British journal of haematology, 2003)
Keywords: 5'-Nucleotidase - deficiency; 5'-Nucleotidase - genetics; Adult; Anemia, Hemolytic - genetics; Anemia, Hemolytic - metabolism; Anemia, Hemolytic - surgery; Anemias. Hemoglobinopathies; Biological and medical sciences; Child, Preschool; Chronic Disease; chronic haemolytic anaemia; Diseases of red blood cells; erythrocyte metabolism; Erythrocytes - metabolism; Female; Ferritins - blood; Frameshift Mutation; Hematologic and hematopoietic diseases; Hematology; Homozygote; Humans; Infant; Male; Medical sciences; Middle Aged; Mutation; Mutation, Missense; mutations; P5′N‐1 gene; pyrimidine 5′‐nucleotidase deficiency; Splenectomy; Human; Pyrimidine-5'-nucleotide nucleosidase; erythrocyte metabolism; Enzyme; Deficiency; Red blood cell; Clinical form; chronic haemolytic anaemia; Hemopathy; Metabolism; pyrimidine 5'-nucleotidase deficiency; Case study; Chronic; Hemolytic anemia; mutations; Gene; Etiology; Glycosidases; Genetics; Hydrolases; N-Glycosidases; Mutation; P5'N-1 gene; Pyrimidine nucleotide