New missense homozygous mutation (Q270Ter) in the pyrimidine 5-nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia

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• 作者：Prashant Warang (1)
  Prabhakar Kedar (1)
  Rakhee Kar (2)
  Kanjaksha Ghosh (1)
  Roshan Colah (1)
  
• 刊名：Annals of Hematology
• 出版年：2013
• 出版时间：May 2013
• 年：2013
• 卷：92
• 期：5
• 页码：715-717
• 全文大小：223KB
• 参考文献：1. Rees DC, Duley JA, Marinaki AM (2003) Pyrimidine 5-nucleotidase deficiency. Br J Haematol 20:375-83 CrossRef
  2. Colah RB, Kedar PS (2006) Red cell enzymopathies in India. In: Agarwal MB (ed) Haematology today. Ashirwad Hematology Centre, Mumbai, pp 19-0
  3. Kanno H, Takizawa T, Miwa S, Fujji H (2004) Molecular basis of Japanese variants of pyrimidine 5- nucleotidase deficiency. Br J Haematol 26:265-71 CrossRef
  4. Zanella A, Bianchi P, Fermo E, Valentini G (2006) Hereditary pyrimidine 5-nucleotidase deficiency: from genetics to clinical manifestations. Br J Haematol 133:113-23 CrossRef
  5. Chiarelli LR, Fermo E, Abrusci P, Bianchi P, Dellacase CM, Gallizzi A, Zanella A, Valentini G (2006) 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. Hematologica 91:1244-247
  6. Beutler E (1986) Red cell metabolism–glycolytic enzymes. In: / Methods in haematology. Churchill Livingstone, New York, pp. 57-2
  7. Warang P, Kedar P, Ghosh K, Colah R (2012) A new simple approach for the determination of pyrimidine 5- nucleotidase activity in human erythrocytes using an ELISA reader. Int J Lab Hematol 34:232-36 CrossRef
  8. Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE (2004) Nonsense-mediated decay approaches the clinic. Nat Genet 36:801-08 CrossRef
  9. Aparna KR, Elizabeth KE (2006) Congenital non-spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5-nucleotidase deficiency. Indian Pediatr 43:184-85
  10. Chiarelli LR, Morera SM, Galizzi A, Fermo E, Zanella A, Valentini G (2008) 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 Mol Dis 40:295-01 CrossRef
  
• 作者单位：Prashant Warang (1)
  Prabhakar Kedar (1)
  Rakhee Kar (2)
  Kanjaksha Ghosh (1)
  Roshan Colah (1)
  
  1. Department of Haematogenetics, National Institute of Immunohaematology, Indian Council of Medical Research, K.E.M. Hospital Campus, 13th Floor, New Multistoried Building, Parel, Mumbai, 400012, India
  2. Department of Clinical Hematology, Institute of Liver and Biliary Sciences, Vasant Kunj, New Delhi, 110070, India
  
• ISSN：1432-0584

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