Human Genome Epidemiology Literature Finder
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Records 1 - 5 (of 5 Records) |
| Query Trace: Disease and HMBS[original query] |
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| HMBS mutations in Chinese patients with acute intermittent porphyria. Annals of human genetics 2008 Sep 72 (Pt 5): 683-6. Yang C-C, Kuo H-C, You H-L, Wang J, Huang C-C, Liu C-Y, Lan M-Y, Stephenson D A, Lee M |
| High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. Orphanet journal of rare diseases 2019 2 14 (1): 59. Barreda-Sánchez María, Buendía-Martínez Juan, Glover-López Guillermo, Carazo-Díaz Carmen, Ballesta-Martínez María Juliana, López-González Vanesa, Sánchez-Soler María José, Rodriguez-Peña Lidya, Serrano-Antón Ana Teresa, Gil-Ferrer Remedios, Martínez-Romero Maria Del Carmen, Carbonell-Meseguer Pablo, Guillén-Navarro Encar |
| Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria. Frontiers in pharmacology 2019 10 10 1018. Fu Yibao, Jia Jinmeng, Yue Lishu, Yang Ruiying, Guo Yongli, Ni Xin, Shi Tiel |
| Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients. PLoS genetics 2022 Sep 18 (9): e1010373. Liang Yonghao, Chiu Peter Ka-Fung, Zhu Yao, Wong Christine Yim-Ping, Xiong Qing, Wang Lin, Teoh Jeremy Yuen-Chun, Cao Qin, Wei Yu, Ye Ding-Wei, Tsui Stephen Kwok-Wing, Ng Chi-F |
| Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria. Journal of cancer research and clinical oncology 2022 10 . Haverkamp Thomas, Bronisch Olivia, Knösel Thomas, Mogler Carolin, Weichert Wilko, Stauch Thomas, Schmid Claudia, Rummeny Claudia, Beykirch Maria K, Petrides Petro |
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