Blood cell phosphofructokinase in Down's syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00278934.pdf
Reference17 articles.
1. Baikie, A. G., Loder, P. B., de Gruchy, G. C., Pitt, D. B.: Phosphohexokinase activity of erythrocytes in mongolism: another possible marker for chromosome 21. Lancet 1965 I, 412?414.
2. Bartels, S., Kruse, K.: Enzymbestimmungen in Erythrocyten bei Kindern mit Down-Syndrom. Humagenetik 5, 305?309 (1968).
3. Benson, P. F., Linacre, B., Taylor, A. I.: Erythrocyte ATP: D-fructose-6-phosphate 1-phosphotransferase (phosphofructokinase) activity in children with normal/G trisomic mosaic Down's syndrome and in normal and Down's syndrome controls. Nature (Lond.) 220, 1235?1236 (1968).
4. Carr, D. H.: Chromosomal abnormalities in clinical medicine. Progr. med. Genet. 6, 1?61 (1969).
5. Doery, J. C. G., Hirsh, J., Garson, O. M., de Gruchy, G. C.: Platelet-phosphohexokinase levels in Down's syndrome. Lancet 1968 II, 894?895.
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1. Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome;Molecular Medicine;2020-11-09
2. Down's syndrome and the molecular biology of chromosome 21;Progress in Neurobiology;1988-01
3. Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody;Human Genetics;1986-09
4. Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody.;Proceedings of the National Academy of Sciences;1981-06-01
5. Nonidentical subunits of human erythrocyte phosphofructokinase;Biochemical Genetics;1977-12
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