A novel missense mutation (1060G → C) in thephosphoglycerate kinasegene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis-Reference-Cited by-同舟云学术

A novel missense mutation (1060G → C) in thephosphoglycerate kinasegene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis

Published:2003-09 Issue:6 Volume:122 Page:1009-1013
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:

Author:

Morimoto Akira,Ueda Ikuyo,Hirashima Yoshiaki,Sawai Yasuko,Usuku Tomohiro,Kano Gen,Kuriyama Kikuko,Todo Shinjiro,Sugimoto Tohru,Kanno Hitoshi,Fujii Hisaichi,Imashuku Shinsaku

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.2003.04543.x/fullpdf

Reference29 articles.

1. Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms;Aasly;European Journal of Neurology,2000

2. Red cell glycolysis in a case of 3-phosphoglycerate kinase deficiency;Arese;European Journal of Clinical Investigation,1973

3. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis;Beutler;British Journal of Haematology,1977

4. Congenital hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes, polynuclear cells and lymphocytes;Cartier;Nouvelle Revue Française d'Hematologie,1971

5. Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens;Cohen-Solal;Blood,1994

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