159 related articles for article (PubMed ID: 11073170)
21. Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.
Anwar R; Gallivan L; Richards M; Khair K; Wright M; Minford A
Haematologica; 2005 Dec; 90(12):1718-20. PubMed ID: 16330458
[TBL] [Abstract][Full Text] [Related]
22. Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.
Standen GR; Bowen DJ
Br J Haematol; 1993 Dec; 85(4):769-72. PubMed ID: 7918041
[TBL] [Abstract][Full Text] [Related]
23. Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency.
Peyvandi F; Tagliabue L; Menegatti M; Karimi M; Komáromi I; Katona E; Muszbek L; Mannucci PM
Hum Mutat; 2004 Jan; 23(1):98. PubMed ID: 14695539
[TBL] [Abstract][Full Text] [Related]
24. The normal and abnormal genes of the a and b subunits in coagulation factor XIII.
Ichinose A; Izumi T; Hashiguchi T
Semin Thromb Hemost; 1996; 22(5):385-91. PubMed ID: 8989821
[TBL] [Abstract][Full Text] [Related]
25. Identification of a point mutation in factor XIII A subunit deficiency.
Board P; Coggan M; Miloszewski K
Blood; 1992 Aug; 80(4):937-41. PubMed ID: 1353995
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.
Biswas A; Ivaskevicius V; Thomas A; Varvenne M; Brand B; Rott H; Haussels I; Ruehl H; Scholz U; Klamroth R; Oldenburg J
Ann Hematol; 2014 Oct; 93(10):1665-76. PubMed ID: 24889649
[TBL] [Abstract][Full Text] [Related]
28. [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]
29. 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]
30. Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system.
Takahashi N; Tsukamoto H; Umeyama H; Castaman G; Rodeghiero F; Ichinose A
Blood; 1998 Apr; 91(8):2830-8. PubMed ID: 9531593
[TBL] [Abstract][Full Text] [Related]
31. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.
Mikkola H; Syrjälä M; Rasi V; Vahtera E; Hämäläinen E; Peltonen L; Palotie A
Blood; 1994 Jul; 84(2):517-25. PubMed ID: 8025280
[TBL] [Abstract][Full Text] [Related]
32. Deficiency of factor XIII gene in Chinese: 3 novel mutations.
Duan B; Wang X; Chu H; Hu Y; Huang X; Qu B; Wang H; Wang Z
Int J Hematol; 2003 Oct; 78(3):251-5. PubMed ID: 14604285
[TBL] [Abstract][Full Text] [Related]
33. A complete deficiency of coagulation factor XIII A-subunit due to a novel compound heterozygote of Ser 413 Leu missense and an nt 389 (ins G) frameshift mutation.
Niiya T; Osawa H; Bando S; Oto Y; Tokuda K; Takeda N; Sumioka M; Murase M; Kida K; Makino H
Br J Haematol; 1999 Dec; 107(4):772-5. PubMed ID: 10606883
[TBL] [Abstract][Full Text] [Related]
34. Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
Mikkola H; Muszbek L; Laiho E; Syrjälä M; Hämäläinen E; Haramura G; Salmi T; Peltonen L; Palotie A
Blood; 1997 Feb; 89(4):1279-87. PubMed ID: 9028951
[TBL] [Abstract][Full Text] [Related]
35. Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations.
Ivaskevicius V; Windyga J; Baran B; Schroeder V; Junen J; Bykowska K; Seifried E; Kohler HP; Oldenburg J
Haemophilia; 2007 Sep; 13(5):649-57. PubMed ID: 17880458
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families.
Inbal A; Yee VC; Kornbrot N; Zivelin A; Brenner B; Seligsohn U
Thromb Haemost; 1997 Jun; 77(6):1062-7. PubMed ID: 9241732
[TBL] [Abstract][Full Text] [Related]
38. Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach.
Jayandharan GR; Viswabandya A; Baidya S; Nair SC; George B; Mathews V; Chandy M; Srivastava A
Thromb Haemost; 2006 Mar; 95(3):551-6. PubMed ID: 16525586
[TBL] [Abstract][Full Text] [Related]
39. Application of HUMF13A01 (AAAG)n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency.
Kangsadalampai S; Coggan M; Caglayan SH; Aktuglu G; Board PG
Thromb Haemost; 1996 Dec; 76(6):879-82. PubMed ID: 8972004
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
