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Items: 1 to 20 of 190

1.

A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia.

Fujihara N, Haneishi A, Yamauchi K, Terasawa F, Ito T, Ishida F, Okumura N.

Thromb Haemost. 2010 Aug;104(2):213-23. doi: 10.1160/TH09-08-0540.

PMID:
20589319
2.

A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo.

Margaglione M, Vecchione G, Santacroce R, D'Angelo F, Casetta B, Papa ML, Grandone E, Di Minno G.

Thromb Haemost. 2001 Dec;86(6):1483-8.

PMID:
11776317
3.
4.

Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.

Soya K, Takezawa Y, Okumura N, Terasawa F.

Thromb Res. 2013 Oct;132(4):465-70. doi: 10.1016/j.thromres.2013.08.010.

PMID:
24011387
5.

In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A>G causing abnormal RNA splicing.

Terasawa F, Kamijyo Y, Fujihara N, Yamauchi K, Kumagai T, Honda T, Shigematsu S, Okumura N.

Clin Chim Acta. 2010 Sep 6;411(17-18):1325-9. doi: 10.1016/j.cca.2010.05.030.

PMID:
20580695
6.

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.

Vu D, de Moerloose P, Batorova A, Lazur J, Palumbo L, Neerman-Arbez M.

J Med Genet. 2005 Sep;42(9):e57.

7.

Differences in the function and secretion of congenital aberrant fibrinogenemia between heterozygous γD320G (Okayama II) and γΔN319-ΔD320 (Otsu I).

Mukai S, Ikeda M, Takezawa Y, Sugano M, Honda T, Okumura N.

Thromb Res. 2015 Dec;136(6):1318-24. doi: 10.1016/j.thromres.2015.11.011.

PMID:
26573395
8.

Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families.

Meyer M, Bergmann F, Brennan SO.

Blood Coagul Fibrinolysis. 2006 Jan;17(1):63-7.

PMID:
16607083
9.

[Assembly and secretion of mutant fibrinogens with variant gamma-chain C terminal region (gamma313-gamma345)].

Terasawa F, Kamijyo Y, Fujihara N, Okumura N.

Rinsho Byori. 2010 Aug;58(8):772-8. Japanese.

PMID:
20860169
10.

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.

Vorjohann S, Fish RJ, Biron-Andréani C, Nagaswami C, Weisel JW, Boulot P, Reyftmann L, de Moerloose P, Neerman-Arbez M.

Thromb Haemost. 2010 Nov;104(5):990-7. doi: 10.1160/TH10-03-0161. Erratum in: Thromb Haemost. 2011 Feb 1;105(2):386.

11.

Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.

Rosenberg JB, Newman PJ, Mosesson MW, Guillin MC, Amrani DL.

Thromb Haemost. 1993 Mar 1;69(3):217-20.

PMID:
8470043
12.

Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization.

Homer VM, Mullin JL, Brennan SO, Barr A, George PM.

J Thromb Haemost. 2003 Jun;1(6):1245-50.

13.

Fibrinogen St. Gallen I (gamma 292 Gly--> Val): evidence for structural alterations causing defective polymerization and fibrinogenolysis.

Stucki B, Schmutz P, Schmid L, Haeberli A, Lämmle B, Furlan M.

Thromb Haemost. 1999 Feb;81(2):268-74.

PMID:
10064005
14.

Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency.

Okumura N, Furihata K, Terasawa F, Ishikawa S, Ueno I, Katsuyama T.

Br J Haematol. 1996 Sep;94(3):526-8.

PMID:
8790154
15.
17.

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.

Castaman G, Giacomelli SH, Duga S, Rodeghiero F.

Haemophilia. 2008 May;14(3):630-3. doi: 10.1111/j.1365-2516.2008.01692.x. No abstract available.

PMID:
18393984
18.

A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.

Xu X, Wu J, Zhai Z, Zhou R, Wang X, Wang H, Ding K, Sun Z, Ni H.

Thromb Haemost. 2006 Jun;95(6):931-5.

PMID:
16732370
19.

Molecular analysis of afibrinogenemic mutations caused by a homozygous FGA1238 bp deletion, and a compound heterozygous FGA1238 bp deletion and novel FGA c.54+3A>C substitution.

Takezawa Y, Terasawa F, Matsuda K, Sugano M, Tanaka A, Fujiwara M, Kainuma K, Okumura N.

Int J Hematol. 2012 Jul;96(1):39-46. doi: 10.1007/s12185-012-1100-3.

PMID:
22639050
20.

Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.

Vu D, Bolton-Maggs PH, Parr JR, Morris MA, de Moerloose P, Neerman-Arbez M.

Blood. 2003 Dec 15;102(13):4413-5.

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