Molecular basis of pyrimidine 5′-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations

Blood Cells, Molecules, and Diseases

Volumn 40, Issue 3, 2008, Pages 295-301

  Chiarelli, Laurent R ^a   Morera, Simone M ^a   Galizzi, Alessandro ^a   Fermo, Elisa ^b   Zanella, Alberto ^b   Valentini, Giovanna ^a  

^a UNIVERSITY OF PAVIA   (Italy)

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

Author keywords

Hemolytic anemia; Mutations; P5 N deficiency; Recombinant mutants

Indexed keywords

PYRIMIDINE 5' NUCLEOTIDE NUCLEOSIDASE;

ARTICLE; DISEASE ACTIVITY; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE TARGETING; HEMOLYTIC ANEMIA; HIGH TEMPERATURE; HUMAN; MISSENSE MUTATION; MUTANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; THERMOSTABILITY; WILD TYPE;

5'-NUCLEOTIDASE; AMINO ACID SUBSTITUTION; ANEMIA, HEMOLYTIC, CONGENITAL; CYTIDINE MONOPHOSPHATE; ENZYME STABILITY; HUMANS; KINETICS; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; TEMPERATURE; URIDINE MONOPHOSPHATE;

EID: 41949086161     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2007.10.005     Document Type: Article

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