India Project Team of the International Cancer Genome Consortium (2013) Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nature Communications, 4, 2873. Jamwal,… Click to show full abstract
India Project Team of the International Cancer Genome Consortium (2013) Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nature Communications, 4, 2873. Jamwal, M., Aggarwal, A., Das, A., Maitra, A., Sharma, P., Krishnan, S., Arora, N., Bansal, D. & Das, R. (2017) Next-generation sequencing unravels homozygous mutation in glucose-6phosphate isomerase, GPI c.1040G> A (p.Arg347His) causing hemolysis in an Indian infant. Clinica Chimica Acta, 468, 81–84. Jamwal, M., Aggarwal, A., Sachdeva, M.U.S., Sharma, P., Malhotra, P., Maitra, A. & Das, R. (2018) Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation. Journal of Clinical Pathology, 71, 648–652. Kanno, H., Murakami, K., Hariyama, Y., Ishikawa, K., Miwa, S. & Fujii, H. (2002) Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus. Blood, 100, 1930. Khazal, S., Polishchuk, V., Manwani, D., Gallagher, P.G., Prinzing, S. & Mahadeo, K.M. (2016) Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency. Blood, 128, 735–737. Koralkova, P., Mojzikova, R., van Oirschot, B., Macartney, C., Timr, P., Vives Corrons, J.L., Striezencova Laluhova, Z., Lejhancova, K., Divoky, V. & van Wijk, R. (2016) Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1. Blood Cells, Molecules & Diseases, 59, 71–76. Murakami, K., Kanno, H., Tancabelic, J. & Fujii, H. (2002) Gene expression and biological significance of hexokinase in erythroid cells. Acta Haematologica, 108, 204–209. de Vooght, K.M.K., van Solinge, W.W., van Wesel, A.C., Kersting, S. & van Wijk, R. (2009) First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis. Haematologica, 94, 1203– 1210.
               
Click one of the above tabs to view related content.