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Volumn 1, Issue 11, 2003, Pages 2356-2359

Hypofibrinogenemia caused by a nonsense mutation in the fibrinogen Bβ chain gene

Author keywords

Fibrinogen; Gene analysis; Hypofibrinogenemia

Indexed keywords

BBETA FIBRINOGEN; ENDODEOXYRIBONUCLEASE NHEI; FIBRINOGEN; FIBRINOGEN TOTTORI II; FIBRINOGEN VARIANT; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

EID: 1842546625     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1046/j.1538-7836.2003.00425.x     Document Type: Article
Times cited : (10)

References (11)
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  • 6
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    • Homozygous truncation of the fibrinogen Aα chain within the coiled coil causes congenital afibrinogenemia
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    • Fellowes, A.P.1    Brennan, S.O.2    Holme, R.3    Stormorken, H.4    Brosstad, F.R.5    George, P.M.6
  • 7
    • 0034972557 scopus 로고    scopus 로고
    • Hypofibrinogenemia associated with a heterozygous C→T nucleotide substitution at position - 1138 BP of the 5′-flanking region of the fibrinogen A α-chain gene
    • Okumura N, Terasawa F, Yonekawa O, Hamada E, Kaneko H. Hypofibrinogenemia associated with a heterozygous C→T nucleotide substitution at position - 1138 BP of the 5′-flanking region of the fibrinogen A α-chain gene. Ann NY Acad Sci 2001; 936: 526-30.
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    • Okumura, N.1    Terasawa, F.2    Yonekawa, O.3    Hamada, E.4    Kaneko, H.5
  • 8
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    • Hypofibrinogenemia associated with a heterozygous missense mutation 153Cys to Arg (Matsumoto IV): in vitro expression demonstrates defective secretion of the variant fibrinogen
    • Terasawa F, Okumura N, Kitano K, Hayashida N, Shimosaka M, Okazaki M, Lord ST. Hypofibrinogenemia associated with a heterozygous missense mutation 153Cys to Arg (Matsumoto IV): in vitro expression demonstrates defective secretion of the variant fibrinogen. Blood 1999; 94: 4122-31.
    • (1999) Blood , vol.94 , pp. 4122-4131
    • Terasawa, F.1    Okumura, N.2    Kitano, K.3    Hayashida, N.4    Shimosaka, M.5    Okazaki, M.6    Lord, S.T.7
  • 9
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    • Hypofibrinogenemia in an individual with 2 coding (γ82 A→G and Bβ235 P→L) and 2 noncoding mutations
    • Brennan SO, Fellowes AP, Faed JM, George PM. Hypofibrinogenemia in an individual with 2 coding (γ82 A→G and Bβ235 P→L) and 2 noncoding mutations. Blood 2000; 95: 1709-13.
    • (2000) Blood , vol.95 , pp. 1709-1713
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    • Brennan SO, Wyatt J, Medicina D, Callea F, George PM. Fibrinogen Brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a β284 Gly→Arg mutation. Am J Pathol 2000; 157: 189-96.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.