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-Reference-Cited by-同舟云学术

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

Published:2008-05 Issue:3 Volume:40 Page:295-301
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Chiarelli Laurent R.,Morera Simone M.,Galizzi Alessandro,Fermo Elisa,Zanella Alberto,Valentini Giovanna

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference24 articles.

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2. Pyrimidine 5′-nucleotidase deficiency;Rees;Br. J. Haematol.,2003

3. Hereditary erythrocyte pyrimidine 5′-nucleotidase deficiency: a biochemical, genetic and clinical overview;Chiarelli;Hematology,2006

4. Hereditary pyrimidine 5′-nucleotidase deficiency: from genetics to clinical manifestations;Zanella;Br. J. Haematol.,2006

5. Hereditary hemolytic anemia with human erythrocyte pirimidine 5′-nucleotidase deficiency;Valentine;J. Clin. Invest.,1974

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