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

Volumn 91, Issue 9, 2006, Pages 1244-1247

  Chiarelli, Laurent R ^a   Fermo, Elisa ^b   Abrusci, Patrizia ^a   Bianchi, Paola ^b   Dellacasa, Chiara M ^c   Galizzi, Alessandro ^a   Zanella, Alberto ^b   Valentini, Giovanna ^a  

^a UNIVERSITY OF PAVIA   (Italy)

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

^c MOLINETTE HOSPITAL   (Italy)

Author keywords

Hemolytic anemia; Mutations; P5 N 1 deficiency; Recombinant mutant

Indexed keywords

GLUTAMINE; PYRIMIDINE 5' NUCLEOTIDASE TYPE 1; PYRIMIDINE 5' NUCLEOTIDE NUCLEOSIDASE; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME DEFICIENCY; ERYTHROCYTE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HEMOLYTIC ANEMIA; HUMAN; INBORN ERROR OF METABOLISM; INTRON; LABORATORY TEST; P5N1 GENE; PHYSICAL EXAMINATION; SYMPTOMATOLOGY;

5'-NUCLEOTIDASE; ADULT; ANEMIA, HEMOLYTIC; CHROMOSOME ABERRATIONS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; ITALY; MUTATION; SEQUENCE DELETION;

EID: 33748765533     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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