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Proteomics analysis of asthenozoospermia and identification of glucose-6-phosphate isomerase as an important enzyme for sperm motility.
Journal of Proteomics, 2019 Yueshuai Guo, Wen-Jing Jiang, Weiling Yu, Xin Niu, Fangjuan Liu, Tao Zhou, Hao Zhang, Yan Li, Hui Zhu, Zuo-min Zhou, J. Sha, Xuejiang Guo, Daozhen Chen +12 moresemanticscholar +1 more sourceNext-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.
Clinica chimica acta; international journal of clinical chemistry, 2017 M. Jamwal, A. Aggarwal, Anirban Das, A. Maitra, Prashant Sharma, S. Krishnan, N. Arora, D. Bansal, R. Das +8 moresemanticscholar +1 more sourceTwo novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Blood Cells, Molecules & Diseases, 2017 R. Mojzíková, P. Koralkova, D. Holub, Zuzana Saxova, D. Pospíšilová, D. Procházková, P. Džubák, M. Horvathova, V. Divoký +8 moresemanticscholar +1 more source