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Volumn 3, Issue 11, 2005, Pages 2591-2593

The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia [8]

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBRIN MONOMER; FIBRINOGEN; NUCLEOTIDE; PLASMA PROTEIN; TRINUCLEOTIDE;

EID: 28444436586     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01613.x     Document Type: Letter
Times cited : (9)

References (13)
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  • 2
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  • 3
    • 0031893570 scopus 로고    scopus 로고
    • Fibrinogen structure and fibrin clot assembly
    • Mosesson MW. Fibrinogen structure and fibrin clot assembly. Semin Thromb Hemost 1998; 24: 169-74.
    • (1998) Semin Thromb Hemost , vol.24 , pp. 169-174
    • Mosesson, M.W.1
  • 4
    • 28444443883 scopus 로고    scopus 로고
    • UCSC Genome Browser. Available at http://genome.ucsc.edu/. (accessed 12 July 2005).
  • 5
    • 28444477099 scopus 로고    scopus 로고
    • The Fibrinogen Database. Available at http://www.geht.org/ databaseang/fibrinogen/ (accessed 12 July 2005).
  • 8
    • 0034651759 scopus 로고    scopus 로고
    • Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
    • Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, Mannucci PM, Tenchini ML. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood 2000; 95: 1336-41.
    • (2000) Blood , vol.95 , pp. 1336-1341
    • Duga, S.1    Asselta, R.2    Santagostino, E.3    Zeinali, S.4    Simonic, T.5    Malcovati, M.6    Mannucci, P.M.7    Tenchini, M.L.8
  • 9
    • 0035880859 scopus 로고    scopus 로고
    • Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein
    • Menegatti M, Asselta R, Duga S, Malcovati M, Bucciarelli P, Mannucci PM, Tenchini ML. Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein. Thromb Res 2001; 103: 299-307.
    • (2001) Thromb Res , vol.103 , pp. 299-307
    • Menegatti, M.1    Asselta, R.2    Duga, S.3    Malcovati, M.4    Bucciarelli, P.5    Mannucci, P.M.6    Tenchini, M.L.7
  • 10
    • 0035895061 scopus 로고    scopus 로고
    • Congenital afibrinogenemia: Mutations leading to premature termination codons in fibrinogen a alpha-chain gene are not associated with the decay of the mutant mRNAs
    • Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood 2001; 98: 3685-92.
    • (2001) Blood , vol.98 , pp. 3685-3692
    • Asselta, R.1    Duga, S.2    Spena, S.3    Santagostino, E.4    Peyvandi, F.5    Piseddu, G.6    Targhetta, R.7    Malcovati, M.8    Mannucci, P.M.9    Tenchini, M.L.10
  • 11
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  • 12
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    • Afibrinogenemia: First identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation
    • Asselta R, Duga S, Simonic T, Malcovati M, Santagostino E, Giangrande PL, Mannucci PM, Tenchini ML. Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. Blood 2000; 96: 2496-500.
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    • Asselta, R.1    Duga, S.2    Simonic, T.3    Malcovati, M.4    Santagostino, E.5    Giangrande, P.L.6    Mannucci, P.M.7    Tenchini, M.L.8
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    • Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family
    • Neerman-Arbez M, Vu D, Abu-Libdeh B, Bouchardy I, Morris MA. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Blood 2003; 101: 3492-4.
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    • Neerman-Arbez, M.1    Vu, D.2    Abu-Libdeh, B.3    Bouchardy, I.4    Morris, M.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.