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Journal Abstract Search

686 related items for PubMed ID: 24118344

  • 1. 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
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  • 5. 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
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  • 6. 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
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  • 11. 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 24; 14(1):182. PubMed ID: 31340840
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  • 12. 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. PubMed ID: 9028951
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  • 13. Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
    Castaman G, Giacomelli SH, Ivaskevicius V, Schroeder V, Kohler HP, Dragani A, Biasioli C, Oldenburg J, Madeo D, Rodeghiero F.
    Haemophilia; 2008 Jan 15; 14(1):96-102. PubMed ID: 18028394
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  • 16. 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 08; 21(1):9. PubMed ID: 31914974
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  • 17. Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms.
    Biswas A, Ivaskevicius V, Thomas A, Oldenburg J.
    Hamostaseologie; 2014 Jan 08; 34(2):160-6. PubMed ID: 24503678
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  • 20. Assessment of Factor XIII.
    Muszbek L, Katona É, Kerényi A.
    Methods Mol Biol; 2017 Jan 08; 1646():277-293. PubMed ID: 28804836
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