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Volumn 78, Issue 3, 2003, Pages 251-255

Deficiency of Factor XIII Gene in Chinese: 3 Novel Mutations

Author keywords

Factor XIII; Function; Mutation; Transcription

Indexed keywords

MESSENGER RNA; MUTANT PROTEIN; NUCLEOTIDE; SERINE; TRYPTOPHAN;

EID: 0142025565     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02983803     Document Type: Article
Times cited : (12)

References (8)
  • 1
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    • (2001) Blood , vol.97 , pp. 2667-2672
    • Koseki, S.1    Souri, M.2    Koga, S.3
  • 2
    • 0026660488 scopus 로고
    • A microtiter plate transglutaminase assay utilizing 5-(biotinamido)pentylamine as substrate
    • Slaughter TF, Achyuthan KE, Lai TS, Greenberg CS. A microtiter plate transglutaminase assay utilizing 5-(biotinamido)pentylamine as substrate. Anal Biochem. 1992;205:166-171.
    • (1992) Anal Biochem , vol.205 , pp. 166-171
    • Slaughter, T.F.1    Achyuthan, K.E.2    Lai, T.S.3    Greenberg, C.S.4
  • 3
    • 0028036639 scopus 로고
    • A microtiter assay for factor XIII using fibrinogen and biotinylcadaverine as substrates
    • Song YC, Sheng D, Taubenfeld SM, Matsueda GR. A microtiter assay for factor XIII using fibrinogen and biotinylcadaverine as substrates. Anal Biochem. 1994;223:88-92.
    • (1994) Anal Biochem , vol.223 , pp. 88-92
    • Song, Y.C.1    Sheng, D.2    Taubenfeld, S.M.3    Matsueda, G.R.4
  • 4
    • 0009479529 scopus 로고    scopus 로고
    • Factor XIII deficiency
    • Miloszewski KJA. Factor XIII deficiency. Br J Haematol. 1999;107:468-484.
    • (1999) Br J Haematol , vol.107 , pp. 468-484
    • Miloszewski, K.J.A.1
  • 5
    • 0031864267 scopus 로고    scopus 로고
    • Arg260-Cys mutation in severe factor XIII deficiency: Conformational change of the A subunit is predicted by molecular modelling and mechanics
    • Ichinose A, Tsukamoto H, Izumi T, et al. Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics. Br J Haematol. 1998;101:264-272.
    • (1998) Br J Haematol , vol.101 , pp. 264-272
    • Ichinose, A.1    Tsukamoto, H.2    Izumi, T.3
  • 6
    • 0032523163 scopus 로고    scopus 로고
    • 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, et al. 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. Blood. 1998;91:2830-2838.
    • (1998) Blood , vol.91 , pp. 2830-2838
    • Takahashi, N.1    Tsukamoto, H.2    Umeyama, H.3
  • 7
    • 0028226016 scopus 로고
    • Three-dimensional structure of a transglutaminase: Human blood coagulation factor XIII
    • Vivien CY, Lars CP, Isolde LT, et al. Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII. Proc Natl Acad Sci USA. 1994;91:7296-7300.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 7296-7300
    • Vivien, C.Y.1    Lars, C.P.2    Isolde, L.T.3
  • 8
    • 0033375488 scopus 로고    scopus 로고
    • 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, et al. 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. Br J Haematol. 1999;107:772-775.
    • (1999) Br J Haematol , vol.107 , pp. 772-775
    • Niiya, T.1    Osawa, H.2    Bando, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.