A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
Author:
Affiliation:
1. Department of Pediatrics, Tokyo Women's Medical University
2. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University
3. Institute of Medical Genetics, Tokyo Women's Medical University
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/6/2/6_2017.01020/_pdf
Reference31 articles.
1. 1. Beutler E. PGK deficiency. Br J Haematol. 2007; 136:3-11.
2. 2. Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S. A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. Blood. 1992; 79:1582-1585.
3. 3. Tamai M, Kawano T, Saito R, Sakurai K, Saito Y, Yamada H, Ida H, Akiyama M. Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy. Int J Hematol. 2014;100:393-397.
4. 4. Shimojima K, Okamoto N, Yamamoto T. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. Am J Med Genet A. 2016; 170A:1076-1079.
5. 5. Higasa K, Miyake N, Yoshimura J. et al. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet. 2016; 61:547-553.
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