Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
http://link.springer.com/content/pdf/10.1007/s12185-014-1615-x.pdf
Reference25 articles.
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2. Chiarelli LR, Morera SM, Bianchi P, Bianchi P, Fermo E, Zanella A, Galizzi A, et al. Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. PLoS ONE. 2012;7:e32065.
3. 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;79:1582–5.
4. Morimoto A, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, et al. A novel missense mutation (1060G → C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis. Br J Haematol. 2003;122:1009–13.
5. Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandara GML, Vercellati C, et al. A new variant of phosphoglycerate kinase deficiency (p.I371 K) with multiple tissue involvement: molecular and functional characterization. Mole Genet Metab. 2012;106:455–61.
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3. A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population;Genes;2019-10-10
4. Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit);Pediatric Hematology and Oncology;2019-07-04
5. Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency;Neurology;2018-08-15
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