Year |
Citation |
Score |
2022 |
Zhang H, Chen C, Wu X, Lou C, Liang Q, Wu W, Wang X, Ding Q. Effects of 14 F9 synonymous codon variants on hemophilia B expression: alteration of splicing along with protein expression. Human Mutation. PMID 35391506 DOI: 10.1002/humu.24377 |
0.363 |
|
2021 |
Liang Q, Lin X, Wu X, Shao Y, Chen C, Dai J, Lu Y, Wu W, Ding Q, Wang X. Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor. Human Mutation. PMID 34882887 DOI: 10.1002/humu.24312 |
0.34 |
|
2019 |
Ma S, Chen C, Liang Q, Wu X, Wang X, Wu W, Liu Y, Ding Q. Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement. Orphanet Journal of Rare Diseases. 14: 182. PMID 31340840 DOI: 10.1186/s13023-019-1144-z |
0.361 |
|
2019 |
Xie X, Chen C, Liang Q, Wu X, Wang X, Wu W, Ding Q. Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively. Haemophilia : the Official Journal of the World Federation of Hemophilia. PMID 30866119 DOI: 10.1111/hae.13704 |
0.328 |
|
2016 |
Zhou J, Ding Q, Wu W, Ouyang Q, Xie Y, Wu X, Lu Y, Dai J, Liang Q, Wang H, Wang X, Hu Y. Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180+2 del), leads to N-terminal truncation of fibrinogen Aα chain and impairs fibrin polymerization. Journal of Clinical Pathology. PMID 27555433 DOI: 10.1136/jclinpath-2016-203862 |
0.357 |
|
2015 |
Zhou J, Xin Y, Ding Q, Jiang L, Chen Y, Dai J, Lu Y, Wu X, Liang Q, Wang H, Wang X. Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. Clinical and Experimental Pharmacology & Physiology. PMID 26510121 DOI: 10.1111/1440-1681.12509 |
0.353 |
|
2015 |
Zhou J, Ding Q, Chen Y, Ouyang Q, Jiang L, Dai J, Lu Y, Wu X, Liang Q, Wang H, Wang X. Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. Blood Cells, Molecules & Diseases. 55: 308-15. PMID 26460252 DOI: 10.1016/j.bcmd.2015.06.002 |
0.343 |
|
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