Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 255

1.

Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency.

Souri M, Yee VC, Fujii N, Ichinose A.

Thromb Res. 2012 Sep;130(3):506-10. doi: 10.1016/j.thromres.2012.05.003. Epub 2012 May 25.

PMID:
22633530
2.

Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation.

Souri M, Yee VC, Kasai K, Kaneshiro T, Narasaki K, Castaman G, Ichinose A.

Br J Haematol. 2001 Jun;113(3):652-4.

PMID:
11380452
3.

Factor XIII: congenital deficiency factor XIII, acquired deficiency, factor XIII A-subunit, and factor XIII B-subunit.

Tahlan A, Ahluwalia J.

Arch Pathol Lab Med. 2014 Feb;138(2):278-81. doi: 10.5858/arpa.2012-0639-RS. Review.

PMID:
24476525
4.

Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.

Souri M, Biswas A, Misawa M, Omura H, Ichinose A.

Haemophilia. 2014 Mar;20(2):255-62. doi: 10.1111/hae.12298. Epub 2013 Nov 29.

PMID:
24286209
5.

Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.

Mikkola H, Yee VC, Syrjälä M, Seitz R, Egbring R, Petrini P, Ljung R, Ingerslev J, Teller DC, Peltonen L, Palotie A.

Blood. 1996 Jan 1;87(1):141-51.

6.

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. doi: 10.1111/hae.12340. Epub 2013 Dec 16.

PMID:
24329762
7.

Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.

Vysokovsky A, Saxena R, Landau M, Zivelin A, Eskaraev R, Rosenberg N, Seligsohn U, Inbal A.

J Thromb Haemost. 2004 Oct;2(10):1790-7.

8.

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 15;89(4):1279-87.

9.

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 15;84(2):517-25.

10.

Factor XIII deficiency.

Hsieh L, Nugent D.

Haemophilia. 2008 Nov;14(6):1190-200. doi: 10.1111/j.1365-2516.2008.01857.x. Review.

PMID:
19141159
11.

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.

PMID:
17880458
12.

[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. Chinese.

PMID:
12015062
13.

Congenital blood coagulation factor XIII deficiency and perinatal management.

Ichinose A, Asahina T, Kobayashi T.

Curr Drug Targets. 2005 Aug;6(5):541-9. Review.

PMID:
16026274
14.

Congenital factor XIII deficiency in Switzerland: from the worldwide first case in 1960 to its molecular characterisation in 2005.

Schroeder V, Durrer D, Meili E, Schubiger G, Kohler HP.

Swiss Med Wkly. 2007 May 19;137(19-20):272-8. Review.

PMID:
17594539
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. Chinese.

PMID:
19642362
17.

Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency.

Gómez García EB, Poort SR, Stibbe J, Sturk A, Schaap MC, Kappers M, Bertina RM.

Br J Haematol. 2001 Feb;112(2):513-8.

PMID:
11167856
18.

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. doi: 10.1111/hae.12267. Epub 2013 Oct 1.

PMID:
24118344
19.

Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.

Mikkola H, Muszbek L, Haramura G, Hämäläinen E, Jalanko A, Palotie A.

Thromb Haemost. 1997 Jun;77(6):1068-72.

PMID:
9241733
20.

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. doi: 10.1097/MBC.0000000000000171.

PMID:
25004025

Supplemental Content

Support Center