177 related articles for article (PubMed ID: 14717781)
1. A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency.
Takamiya O; Hino K
Br J Haematol; 2004 Feb; 124(3):336-42. PubMed ID: 14717781
[TBL] [Abstract][Full Text] [Related]
2. Factor VII R110C: a novel missense mutation (Arg110Cys) in the second epidermal growth factor-like domain causing factor VII deficiency in members of a Japanese family.
Suto M; Uchiumi H; Tsukamoto N; Nojima Y; Tamura J; Naruse T
Blood Coagul Fibrinolysis; 2000 Jul; 11(5):415-9. PubMed ID: 10937801
[TBL] [Abstract][Full Text] [Related]
3. Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency.
McVey JH; Boswell EJ; Takamiya O; Tamagnini G; Valente V; Fidalgo T; Layton M; Tuddenham EG
Blood; 1998 Aug; 92(3):920-6. PubMed ID: 9680360
[TBL] [Abstract][Full Text] [Related]
4. Molecular characterization of four novel mutations causing factor VII deficiency.
Tamary H; Fromovich-Amit Y; Shalmon L; Zaizov R; Yaniv I; Klar A; Peretz H; Brenner B; Lanir N; Zivelin A; Seligsohn U
Hematol J; 2000; 1(6):382-9. PubMed ID: 11920218
[TBL] [Abstract][Full Text] [Related]
5. Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.
Branchini A; Ferrarese M; Lombardi S; Mari R; Bernardi F; Pinotti M
J Thromb Haemost; 2016 Oct; 14(10):1994-2000. PubMed ID: 27513915
[TBL] [Abstract][Full Text] [Related]
6. Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s.
Hao X; Cheng X; Ye J; Wang Y; Yang L; Wang M; Jin Y
Blood Coagul Fibrinolysis; 2016 Jun; 27(4):461-3. PubMed ID: 26761581
[TBL] [Abstract][Full Text] [Related]
7. Genotype associations of factor VII gene with plasma factor VII coagulant activity and antigen levels in healthy Chinese.
Liu Y; Heng CK; Saha N; Hong S; Low PS
Blood Coagul Fibrinolysis; 2002 Apr; 13(3):217-24. PubMed ID: 11943935
[TBL] [Abstract][Full Text] [Related]
8. Molecular characterization of a factor VII deficient patient supports the importance of the second epidermal growth factor-like domain.
D'Andrea G; Bossone A; Lupone MR; Peyvandi F; Maisto G; Perricone F; Grandone E; Margaglione M
Haematologica; 2004 Aug; 89(8):979-84. PubMed ID: 15339682
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G).
Pruthi RK; Rodriguez V; Allen C; Slaby JA; Schmidt KA; Plumhoff EA
Eur J Haematol; 2007 Oct; 79(4):354-9. PubMed ID: 17692102
[TBL] [Abstract][Full Text] [Related]
10. [Haplotype Analysis of Coagulation Factor VII Gene in a Patient with Congenital Coagulation Factor VII Deficiency with Heterozygous p.Arg337Cys Mutation and o.Aro413Gin Polymorphism..].
Suzuki K; Yoshioka T; Obara T; Suwabe A
Rinsho Byori; 2016 May; 64(4):380-386. PubMed ID: 29182802
[TBL] [Abstract][Full Text] [Related]
11. Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.
Takamiya O; Kemball-Cook G; Martin DM; Cooper DN; von Felten A; Meili E; Hann I; Prangnell DR; Lumley H; Tuddenham EG
Hum Mol Genet; 1993 Sep; 2(9):1355-9. PubMed ID: 8242057
[TBL] [Abstract][Full Text] [Related]
12. Inherited factor VII deficiency: identification of two novel mutations (A191V and T239P) in the catalytic domain.
Borensztajn K; Chafa O; Le Bonniec B; Wajcman H; Reghis A; Fischer AM; Tapon-Bretaudière J
Thromb Res; 2005; 116(2):115-20. PubMed ID: 15907525
[TBL] [Abstract][Full Text] [Related]
13. [Phenotype and genotype analysis for a consanguineous pedigree with combined coagulation factor VII and X deficiency].
Jin Y; Wang M; Wang Y; Yang X; Yang L; Xie Y; Xie H; Zhu L; Yu F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):16-20. PubMed ID: 24510554
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of an inherited FVII deficiency pedigree caused by homozygosity of Thr359Met].
Chu HY; Wang HL; Ding QL; Wang XF; Qu B; Wu F; Kang WY; Duan BH; Yin J; Fu QH; Wu WM; Wang ZY
Zhonghua Xue Ye Xue Za Zhi; 2003 Mar; 24(3):134-7. PubMed ID: 12697124
[TBL] [Abstract][Full Text] [Related]
15. Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain.
Takamiya O; Seta M; Tanaka K; Ishida F
Clin Lab Haematol; 2002 Aug; 24(4):233-8. PubMed ID: 12181027
[TBL] [Abstract][Full Text] [Related]
16. Two novel mutations in severe factor VII deficiency.
Gomez K; Laffan MA; Kemball-Cook G; Pasi J; Layton M; Singer JD; Tuddenham EG; McVey JH
Br J Haematol; 2004 Jul; 126(1):105-10. PubMed ID: 15198740
[TBL] [Abstract][Full Text] [Related]
17. Characterization of a Cys329Gly mutation causing hereditary factor VII deficiency.
Wu Y; Tu X; Lian Y; Chen F; Lan F; Zhu Z
Acta Haematol; 2006; 116(2):96-100. PubMed ID: 16914903
[TBL] [Abstract][Full Text] [Related]
18. Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain.
Chollet ME; Andersen E; Skarpen E; Myklebust CF; Koehler C; Morth JP; Chuansumrit A; Pinotti M; Bernardi F; Thiede B; Sandset PM; Skretting G
Biochim Biophys Acta Mol Basis Dis; 2018 Mar; 1864(3):660-667. PubMed ID: 29246447
[TBL] [Abstract][Full Text] [Related]
19. Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s).
Furlan Freguia C; Toso R; Pollak ES; Arruda VR; Pinotti M; Bernardi F
Haematologica; 2004 Dec; 89(12):1504-9. PubMed ID: 15590402
[TBL] [Abstract][Full Text] [Related]
20. Severe factor VII deficiency caused by a novel mutation His348 to Gln in the catalytic domain.
Katsumi A; Matsushita T; Yamazaki T; Sugiura I; Kojima T; Saito H
Thromb Haemost; 2000 Feb; 83(2):239-43. PubMed ID: 10739380
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]