Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: PGM3[original query] |
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Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clinical immunology (Orlando, Fla.) 2015 Oct . Lundin Karin E, Hamasy Abdulrahman, Backe Paul Hoff, Moens Lotte N, Falk-Sörqvist Elin, Elgstøen Katja B, Mørkrid Lars, Bjørås Magnar, Granert Carl, Norlin Anna-Carin, Nilsson Mats, Christensson Birger, Stenmark Stephan, Smith C I Edva |
Genome-wide association study and identification of chromosomal enhancer maps in multiple brain regions related to autism spectrum disorder. Autism research : official journal of the International Society for Autism Research 2019 Jan 12 (1): 26-32. Zhang Lu, Liu Li, Wen Yan, Ma Mei, Cheng Shiqiang, Yang Jian, Li Ping, Cheng Bolun, Du Yanan, Liang Xiao, Zhao Yan, Ding Miao, Guo Xiong, Zhang Fe |
Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance. Frontiers in genetics 2020 11 11 559080. Liu Xiao-Rong, Bian Wen-Jun, Wang Jie, Ye Ting-Ting, Li Bing-Mei, Liu De-Tian, Tang Bin, Deng Wei-Wen, Shi Yi-Wu, Su Tao, Yi Yong-Hong, Liao Wei-Pi |
Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms. Journal of clinical medicine 2023 12 12 (24): . Hyun-Young Kim, Keon Hee Yoo, Chul Won Jung, Hee-Jin Kim, Sun-Hee K |
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