메뉴 건너뛰기




Volumn 76, Issue 2, 1996, Pages 139-142

New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13; PROTEIN SUBUNIT;

EID: 0029794496     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650542     Document Type: Article
Times cited : (25)

References (29)
  • 3
    • 0018426668 scopus 로고
    • Genetic polymorphism of the A subunit of human coagulation factor XIII
    • Board PG. Genetic polymorphism of the A subunit of human coagulation factor XIII. Am J Hum Genet 1979; 31: 116-24.
    • (1979) Am J Hum Genet , vol.31 , pp. 116-124
    • Board, P.G.1
  • 4
    • 0019257928 scopus 로고
    • Genetic polymorphism of the B subunit of human coagulation factor XIII
    • Board PG. Genetic polymorphism of the B subunit of human coagulation factor XIII. Am J Hum Genet 1980; 32: 348-53.
    • (1980) Am J Hum Genet , vol.32 , pp. 348-353
    • Board, P.G.1
  • 5
    • 0023751852 scopus 로고
    • β-chains prevent the proteolytic inactivation of the α-chains of plasma Factor XIII
    • Mary A, Achyuthan KE, Greenberg CS. β-chains prevent the proteolytic inactivation of the α-chains of plasma Factor XIII. Biochim Biophys Acta 1988; 966: 328-35.
    • (1988) Biochim Biophys Acta , vol.966 , pp. 328-335
    • Mary, A.1    Achyuthan, K.E.2    Greenberg, C.S.3
  • 6
    • 0015498692 scopus 로고
    • Comparative studies on the fibrin-stabilizing factors from human plasma, platelets and placentas
    • Bohn H. Comparative studies on the fibrin-stabilizing factors from human plasma, platelets and placentas. Ann New York Acad Sci 1972; 202: 256-72.
    • (1972) Ann New York Acad Sci , vol.202 , pp. 256-272
    • Bohn, H.1
  • 8
    • 0021809776 scopus 로고
    • Identification of blood coagulation factor XIII in human peritoneal macrophages
    • Adany R, Belkin A, Vasilevskaya T, Muszbek L. Identification of blood coagulation factor XIII in human peritoneal macrophages. Eur J Cell Biol 1985; 38: 171-3.
    • (1985) Eur J Cell Biol , vol.38 , pp. 171-173
    • Adany, R.1    Belkin, A.2    Vasilevskaya, T.3    Muszbek, L.4
  • 9
    • 0023685125 scopus 로고
    • Localization of the coagulation Factor XIIIA subunit gene (F13A) to chromosome bands 6p24>p25
    • Board PG, Webb GC, McKee J, Ichinose A. Localization of the coagulation Factor XIIIA subunit gene (F13A) to chromosome bands 6p24>p25. Cytogen Cell Genet 1986; 48: 25-7.
    • (1986) Cytogen Cell Genet , vol.48 , pp. 25-27
    • Board, P.G.1    Webb, G.C.2    McKee, J.3    Ichinose, A.4
  • 10
    • 0024495557 scopus 로고
    • Localization of human coagulation Factor XIIIB subunit gene (F13B) to chromosome bands Iq31-32.1 and restriction fragment polymorphism of the locus
    • Webb GC, Coggan M, Ichinose A, Board PC. Localization of human coagulation Factor XIIIB subunit gene (F13B) to chromosome bands Iq31-32.1 and restriction fragment polymorphism of the locus. Hum Genet 1989; 81: 157-60.
    • (1989) Hum Genet , vol.81 , pp. 157-160
    • Webb, G.C.1    Coggan, M.2    Ichinose, A.3    Board, P.C.4
  • 11
    • 33947268119 scopus 로고
    • A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilising factor deficiency
    • Duckert F, Jung E, Shmerling DH. A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilising factor deficiency. Thromb Diath Haemorr 1960; 5: 179-86.
    • (1960) Thromb Diath Haemorr , vol.5 , pp. 179-186
    • Duckert, F.1    Jung, E.2    Shmerling, D.H.3
  • 12
    • 0026700992 scopus 로고
    • 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: 937-41.
    • (1992) Blood , vol.80 , pp. 937-941
    • Board, P.1    Coggan, M.2    Miloszewski, K.3
  • 13
    • 0026660594 scopus 로고
    • Deficiency of coagulation Factor XIII A subunit caused by the dinucleotide deletion at the 5′ end of exon III
    • Kamura T, Okamura T, Murakawa M, Tsuda H, Teshima T, Shibuya T, Harada M, Niho Y. Deficiency of coagulation Factor XIII A subunit caused by the dinucleotide deletion at the 5′ end of exon III. J Clin Invest 1992; 90: 315-9.
    • (1992) J Clin Invest , vol.90 , pp. 315-319
    • Kamura, T.1    Okamura, T.2    Murakawa, M.3    Tsuda, H.4    Teshima, T.5    Shibuya, T.6    Harada, M.7    Niho, Y.8
  • 14
    • 0027333222 scopus 로고
    • 171→stop codon) in factor XIII A subunit deficiency
    • 171→stop codon) in factor XIII A subunit deficiency. Br J Haematol 1993; 85: 769-72.
    • (1993) Br J Haematol , vol.85 , pp. 769-772
    • Standen, G.R.1    Bowen, D.J.2
  • 15
    • 0028233152 scopus 로고
    • 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. Deficiency in the A-subunit of coagulation Factor XIII: Two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84: 517-25.
    • (1994) Blood , vol.84 , pp. 517-525
    • Mikkola, H.1    Syrjälä, M.2    Rasi, V.3    Vahtera, E.4    Hämäläinen, E.5    Peltonen, L.6    Palotie, A.7
  • 16
    • 0028965728 scopus 로고
    • Mutations causing coagulation Factor XIII subunit A 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 subunit A deficiency: Characterization of the mutant proteins after expression in yeast. Blood 1995; 85: 2455-60.
    • (1995) Blood , vol.85 , pp. 2455-2460
    • Coggan, M.1    Baker, R.2    Miloszewski, K.3    Woodfield, G.4    Board, P.5
  • 17
    • 0029048415 scopus 로고
    • A point mutation in an invariant splice acceptor site results in a decreased mRN A level in a patient with severe coagulation factor XIII subunit A deficiency
    • Vreken P, Niessen RWLM, Peters M, Schaap MCL, Zuithoffrijntjes JGM, Sturk A. A point mutation in an invariant splice acceptor site results in a decreased mRN A level in a patient with severe coagulation factor XIII subunit A deficiency. Throm Haemost 1995; 74: 584-9.
    • (1995) Throm Haemost , vol.74 , pp. 584-589
    • Vreken, P.1    Niessen, R.W.L.M.2    Peters, M.3    Schaap, M.C.L.4    Zuithoffrijntjes, J.G.M.5    Sturk, A.6
  • 18
    • 0028973614 scopus 로고
    • Factor XIIIA Calgary: A candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit
    • Aslam S, Poon MC, Yee VC, Bowen DJ, Standen GR. Factor XIIIA Calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit. Br J Haematol 1995; 91: 452-7.
    • (1995) Br J Haematol , vol.91 , pp. 452-457
    • Aslam, S.1    Poon, M.C.2    Yee, V.C.3    Bowen, D.J.4    Standen, G.R.5
  • 19
    • 0028820520 scopus 로고
    • 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: 728-35.
    • (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
  • 20
    • 0026549893 scopus 로고
    • Detecting single base substitutions as heteroduplex polymorphisms
    • White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992; 12: 301-6.
    • (1992) Genomics , vol.12 , pp. 301-306
    • White, M.B.1    Carvalho, M.2    Derse, D.3    O'Brien, S.J.4    Dean, M.5
  • 21
    • 0001040957 scopus 로고
    • 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: 5829-33.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 5829-5833
    • Ichinose, A.1    Davie, E.W.2
  • 22
    • 0344053910 scopus 로고
    • Primary structure of blood coagulation factor XIII (fibrinoligase, transglutaminase) from human placenta
    • Takahashi N, Takahashi Y, Putnam FW. Primary structure of blood coagulation factor XIII (fibrinoligase, transglutaminase) from human placenta. Proc Natl Acad Sci USA. 1986; 83: 8019-23.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 8019-8023
    • Takahashi, N.1    Takahashi, Y.2    Putnam, F.W.3
  • 24
    • 0027401242 scopus 로고
    • Mutations in the X-linked Ela subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex
    • Chun K, MacKay N, Petrova-Benedict R, Robinson BH. Mutations in the X-linked Ela subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. Hum Mol Genet 1993; 2: 449-54.
    • (1993) Hum Mol Genet , vol.2 , pp. 449-454
    • Chun, K.1    MacKay, N.2    Petrova-Benedict, R.3    Robinson, B.H.4
  • 26
    • 0014147852 scopus 로고
    • Congenital deficiency of factor XIII (fibrin-stabilizing factor)
    • Britten AFH. Congenital deficiency of factor XIII (fibrin-stabilizing factor). Am J Med 1967; 43: 751-61.
    • (1967) Am J Med , vol.43 , pp. 751-761
    • Britten, A.F.H.1
  • 27
    • 0015498627 scopus 로고
    • Documentation of the plasma factor XIII deficiency in man
    • Duckert F. Documentation of the plasma factor XIII deficiency in man. Ann New York Acad Sci 1972; 202: 190-9.
    • (1972) Ann New York Acad Sci , vol.202 , pp. 190-199
    • Duckert, F.1
  • 29
    • 0024297447 scopus 로고
    • Methylation at dinucleotides other than CpG: Implication for human maintenance methylation
    • Woodcock DM, Crowther PJ, Jefferson S, Diver WP. Methylation at dinucleotides other than CpG: implication for human maintenance methylation. Gene 1988; 74: 151-2.
    • (1988) Gene , vol.74 , pp. 151-152
    • Woodcock, D.M.1    Crowther, P.J.2    Jefferson, S.3    Diver, W.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.