168 related articles for article (PubMed ID: 30935919)
1. Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency.
Jia S; He Y; Lu M; Liao N; Lei Y; Lauriane N; Liang K; Wei H
Gene; 2019 Jun; 702():143-147. PubMed ID: 30935919
[TBL] [Abstract][Full Text] [Related]
2. Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.
Ma S; Chen C; Liang Q; Wu X; Wang X; Wu W; Liu Y; Ding Q
Orphanet J Rare Dis; 2019 Jul; 14(1):182. PubMed ID: 31340840
[TBL] [Abstract][Full Text] [Related]
3. Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.
Jang MA; Park YS; Lee KO; Kim HJ
Blood Coagul Fibrinolysis; 2015 Jan; 26(1):46-9. PubMed ID: 25004025
[TBL] [Abstract][Full Text] [Related]
4. [Identification of genetic defects in a Chinese pedigree with factor XIII deficiency: case report and literature review].
Xu G; Liang Q; Zhang L; Shen Y; Ding Q; Wang X; Wang H
Zhonghua Xue Ye Xue Za Zhi; 2015 Oct; 36(10):844-8. PubMed ID: 26477763
[TBL] [Abstract][Full Text] [Related]
5. A novel F13A1 gene mutation (Arg208Pro) in a Chinese patient with factor XIII deficiency.
Xie H; Wang M; Jin Y; Li X; Jiang S; Yang L
Blood Coagul Fibrinolysis; 2022 Sep; 33(6):337-341. PubMed ID: 35981255
[TBL] [Abstract][Full Text] [Related]
6. [Identification of a novel mutation of F (13) A gene in a pedigree with factor XIII deficiency].
Jiao WY; Wu JS; Ding QL; Wang XF; Xu XC; Ding KY; Liu X
Zhonghua Xue Ye Xue Za Zhi; 2007 Sep; 28(9):598-601. PubMed ID: 18246815
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.
Yan L; Wang T; Qiu J; Zhang X; Peng J; Fang Y; Sheng Z
Int J Hematol; 2023 Jul; 118(1):26-35. PubMed ID: 37059930
[TBL] [Abstract][Full Text] [Related]
8. Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.
Borhany M; Handrkova H; Cairo A; Schroeder V; Fatima N; Naz A; Amanat S; Shamsi T; Peyvandi F; Kohler HP
Haemophilia; 2014 Jul; 20(4):568-74. PubMed ID: 24329762
[TBL] [Abstract][Full Text] [Related]
9. Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.
Katona É; Muszbek L; Devreese K; Kovács KB; Bereczky Z; Jonkers M; Shemirani AH; Mondelaers V; Ermens AA
Haemophilia; 2014 Jan; 20(1):114-20. PubMed ID: 24118344
[TBL] [Abstract][Full Text] [Related]
10. Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family.
Onland W; Böing AN; Meijer AB; Schaap MC; Nieuwland R; Haasnoot K; Sturk A; Peters M
Haemophilia; 2005 Sep; 11(5):539-47. PubMed ID: 16128900
[TBL] [Abstract][Full Text] [Related]
11. Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A
Ivaškevičius V; Biswas A; Garly ML; Oldenburg J
Haemophilia; 2017 May; 23(3):e194-e203. PubMed ID: 28520207
[TBL] [Abstract][Full Text] [Related]
12. Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family.
Sun L; Yan Q; Wang Y; Luo H; Du P; Hassan R; Liu L; Jiang W
Hematology; 2018 Sep; 23(8):501-509. PubMed ID: 29307277
[TBL] [Abstract][Full Text] [Related]
13. Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.
Deng J; Li D; Mei H; Tang L; Wang HF; Hu Y
BMC Med Genet; 2020 Jan; 21(1):9. PubMed ID: 31914974
[TBL] [Abstract][Full Text] [Related]
14. A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report.
Cai R; Li Y; Wang W; Feng Q
BMC Med Genet; 2020 Sep; 21(1):175. PubMed ID: 32883222
[TBL] [Abstract][Full Text] [Related]
15. [Identification of two novel mutation in two Chinese hereditary coagulation factor XIII deficiency families].
Duan B; Wang H; Chu H; Wang X; Qu B; Li D; Wang H; Yin J; Kang W; Wang Z
Zhonghua Xue Ye Xue Za Zhi; 2002 Mar; 23(3):117-20. PubMed ID: 12015062
[TBL] [Abstract][Full Text] [Related]
16. [Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency].
Zheng WD; Liu YH; He QY; Chen ZH; Fan XB; Liu HF
Zhonghua Xue Ye Xue Za Zhi; 2009 Mar; 30(3):158-61. PubMed ID: 19642362
[TBL] [Abstract][Full Text] [Related]
17. Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.
Shanbhag S; Ghosh K; Shetty S
Blood Cells Mol Dis; 2016 Mar; 57():81-4. PubMed ID: 26852661
[TBL] [Abstract][Full Text] [Related]
18. Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.
Shen MC; Chen M; Chang SP; Lin PT; Hsieh HN; Lin KH
Pediatr Hematol Oncol; 2018; 35(7-8):442-446. PubMed ID: 30702381
[TBL] [Abstract][Full Text] [Related]
19. [A novel genetic defect in a Chinese family with inherited coagulation factor XIII deficiency].
Wu SY; Wang ZY; Dong NZ; Zhang W; Bai X; Ruan CG
Zhonghua Xue Ye Xue Za Zhi; 2006 Mar; 27(3):145-9. PubMed ID: 16792911
[TBL] [Abstract][Full Text] [Related]
20. Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency.
Kangsadalampai S; Yenchitsomanus P; Chelvanayagam G; Sawasdee N; Laosombat V; Board P
Eur J Haematol; 2000 Oct; 65(4):279-84. PubMed ID: 11073170
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]