Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′-nucleotidase deficiency

British Journal of Haematology

Volumn 122, Issue 5, 2003, Pages 847-851

  Bianchi, Paola ^a   Fermo, Elisa ^a   Alfinito, Fiorella ^b   Vercellati, Cristina ^a   Baserga, Mariangiola ^c   Ferraro, Filomena ^b   Guzzo, Immacolata ^c   Rotoli, Bruno ^b   Zanella, Alberto ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

Chronic haemolytic anaemia; Erythrocyte metabolism; Mutations; P5 N 1 gene; Pyrimidine 5 nucleotidase deficiency

Indexed keywords

FERRITIN; IRON; PYRIMIDINE 5' NUCLEOTIDE NUCLEOSIDASE;

ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; ENZYME DEFICIENCY; FERRITIN BLOOD LEVEL; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GEOGRAPHY; HEMATOLOGY; HEMOLYTIC ANEMIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; ITALY; MISSENSE MUTATION; PATIENT; PRIORITY JOURNAL; PYRIMIDINE 5' NUCLEOTIDASE DEFICIENCY; RISK FACTOR; SPHEROCYTOSIS; SPLENECTOMY;

5'-NUCLEOTIDASE; ADULT; ANEMIA, HEMOLYTIC; CHILD, PRESCHOOL; CHRONIC DISEASE; ERYTHROCYTES; FEMALE; FERRITINS; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; SPLENECTOMY;

EID: 0041911478     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04532.x     Document Type: Article

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