Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: AP3B1[original query] |
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A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease. Arteriosclerosis, thrombosis, and vascular biology 2007 Sep 27 (9): 2030-6. Luke May M, Kane John P, Liu Dongming M, Rowland Charles M, Shiffman Dov, Cassano June, Catanese Joseph J, Pullinger Clive R, Leong Diane U, Arellano Andre R, Tong Carmen H, Movsesyan Irina, Naya-Vigne Josephina, Noordhof Curtis, Feric Nicole T, Malloy Mary J, Topol Eric J, Koschinsky Marlys L, Devlin James J, Ellis Stephen |
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. The Journal of allergy and clinical immunology 2015 May 135 (5): 1310-8.e1. Cetica Valentina, Hackmann Yvonne, Grieve Samantha, Sieni Elena, Ciambotti Benedetta, Coniglio Maria Luisa, Pende Daniela, Gilmour Kimberly, Romagnoli Paolo, Griffiths Gillian M, Aricò Mauriz |
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. International journal of hematology 2017 Mar . Mukda Ekchol, Trachoo Objoon, Pasomsub Ekawat, Tiyasirichokchai Rawiphorn, Iemwimangsa Nareenart, Sosothikul Darintr, Chantratita Wasun, Pakakasama Sama |
Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis. Frontiers in immunology 2019 3 10 395. Miao Yi, Zhu Hua-Yuan, Qiao Chun, Xia Yi, Kong Yiling, Zou Yi-Xin, Miao Yu-Qing, Chen Xiao, Cao Lei, Wu Wei, Liang Jin-Hua, Wu Jia-Zhu, Wang Li, Fan Lei, Xu Wei, Li Jian-Yo |
Genome-wide association study reveals genetic variants associated with HIV-1C infection in a Botswana study population.
Proceedings of the National Academy of Sciences of the United States of America 2021 Nov 118 (47): . Shevchenko Andrey K, Zhernakova Daria V, Malov Sergey V, Komissarov Alexey, Kolchanova Sofia M, Tamazian Gaik, Antonik Alexey, Cherkasov Nikolay, Kliver Sergey, Turenko Anastasiia, Rotkevich Mikhail, Evsyukov Igor, Vlahov David, Thami Prisca K, Gaseitsiwe Simani, Novitsky Vladimir, Essex Myron, O'Brien Stephen |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
Higher 13-Gene-Estimated TMB Detected from Plasma ctDNA is Associated with Worse Outcome for T-Cell Lymphoma Patients. Advanced biology 2023 9 e2300042. Cunte Chen, Ling Huang, Zheng Chen, Qiuxiang Ou, Sichu Liu, Xinmiao Jiang, Feili Chen, Xiaojuan Wei, Hanguo Guo, Yang Shao, Chengwu Zeng, Yangqiu Li, Wenyu |
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