Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: HEXB[original query] |
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Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. Molecular genetics and metabolism 2006 Feb 87 (2): 122-7. Vallance Hilary, Morris Tara J, Coulter-Mackie Marion, Lim-Steele Joyce, Kaback Micha |
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PloS one 2018 2 13 (2): e0188869. Ji Haoran, Li Dongxiao, Wu Ye, Zhang Quanli, Gu Qiang, Xie Han, Ji Taoyun, Wang Huifang, Zhao Lu, Zhao Haijuan, Yang Yanling, Feng Hongchun, Xiong Hui, Ji Jinhua, Yang Zhixian, Kou Liping, Li Ming, Bao Xinhua, Chang Xingzhi, Zhang Yuehua, Li Li, Li Huijuan, Niu Zhengping, Wu Xiru, Xiao Jiangxi, Jiang Yuwu, Wang Jingm |
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. Clinical neurology and neurosurgery 2018 2 167 43-53. Mahdieh Nejat, Mikaeeli Sahar, Tavasoli Ali Reza, Rezaei Zahra, Maleki Majid, Rabbani Bahar |
Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA. Human genome variation 2019 8 5 18003. Dastsooz Hassan, Alipour Mohsen, Mohammadi Sanaz, Kamgarpour Fatemeh, Dehghanian Fatemeh, Fardaei Maj |
Novel Alzheimer risk genes determine the microglia response to amyloid-ß but not to TAU pathology. EMBO molecular medicine 2020 Jan e10606. Sierksma Annerieke, Lu Ashley, Mancuso Renzo, Fattorelli Nicola, Thrupp Nicola, Salta Evgenia, Zoco Jesus, Blum David, Buée Luc, De Strooper Bart, Fiers Ma |
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. Journal of molecular neuroscience : MN 2021 9 72 (3): 555-564. Abtahi Rezvan, Karimzadeh Parvaneh, Rezayi Alireza, Salehpour Shadab, Akbarzadeh Diba, Tonekaboni Seyed Hassan, Emameh Reza Zolfaghari, Houshmand Masso |
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