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Volumn 9, Issue 5, 1998, Pages 441-443

A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene

Author keywords

Factor XIII; Frameshift mutation; Insertion

Indexed keywords

BLOOD CLOTTING FACTOR 8A;

EID: 0031848336     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-199807000-00007     Document Type: Article
Times cited : (9)

References (14)
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  • 4
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    • Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII
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    • (1993) Blood , vol.82 , pp. 145-150
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  • 6
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    • Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor
    • Ichinose A, Davie EW. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 1988; 85: 5829-5833.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 5829-5833
    • Ichinose, A.1    Davie, E.W.2
  • 8
    • 0030845153 scopus 로고    scopus 로고
    • 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, Hamalainen E, Jalanko A, Palotie A. Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins. Thromb Haemost 1997; 77: 1068-1072.
    • (1997) Thromb Haemost , vol.77 , pp. 1068-1072
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  • 9
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    • Mutations causing coagulation factor XIII subunitA deficiency: Characterization of the mutant proteins after expression in yeast
    • Coggan M, Baker R, Miloszewski K, Woodfield G, Board P. Mutations causing coagulation factor XIII subunitA deficiency: characterization of the mutant proteins after expression in yeast. Blood 1995; 85: 2455-2460.
    • (1995) Blood , vol.85 , pp. 2455-2460
    • Coggan, M.1    Baker, R.2    Miloszewski, K.3    Woodfield, G.4    Board, P.5
  • 11
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    • Molecular basis of inherited factor XIII deficiency: Identification of multiple mutations provides insights into protein function
    • Anwar R, Stewart AD, Miloszewski KJA, Losowsky MS, Markham AF. Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br J Haematol 1995; 91: 728-735.
    • (1995) Br J Haematol , vol.91 , pp. 728-735
    • Anwar, R.1    Stewart, A.D.2    Miloszewski, K.J.A.3    Losowsky, M.S.4    Markham, A.F.5
  • 12
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    • 171 → stop codon) in factor XIII A subunit deficiency
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  • 13
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    • Identification of a point mutation in factor XIII A subunit deficiency
    • Board P, Coggan M, Miloszewski K. Identification of a point mutation in factor XIII A subunit deficiency. Blood 1992; 80: 937-941.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.