164 related articles for article (PubMed ID: 11154146)
1. Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency.
Akhavan S; Mannucci PM; Lak M; Mancuso G; Mazzucconi MG; Rocino A; Jenkins PV; Perkins SJ
Thromb Haemost; 2000 Dec; 84(6):989-97. PubMed ID: 11154146
[TBL] [Abstract][Full Text] [Related]
2. Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency.
Peyvandi F; Jenkins PV; Mannucci PM; Billio A; Zeinali S; Perkins SJ; Perry DJ
Thromb Haemost; 2000 Aug; 84(2):250-7. PubMed ID: 10959697
[TBL] [Abstract][Full Text] [Related]
3. A severe neonatal presentation of factor II deficiency.
Pasmant E; Dumont B; Lacapere JJ; Dautzenberg MD; Bezeaud A
Eur J Haematol; 2011 Nov; 87(5):464-6. PubMed ID: 21692854
[TBL] [Abstract][Full Text] [Related]
4. Congenital prothrombin deficiency.
Lancellotti S; De Cristofaro R
Semin Thromb Hemost; 2009 Jun; 35(4):367-81. PubMed ID: 19598065
[TBL] [Abstract][Full Text] [Related]
5. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T
Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
[TBL] [Abstract][Full Text] [Related]
6. Compound heterozygosity for two novel missense mutations in the prothrombin gene in a patient with a severe bleeding tendency.
Poort SR; Landolfi R; Bertina RM
Thromb Haemost; 1997 Apr; 77(4):610-5. PubMed ID: 9134629
[TBL] [Abstract][Full Text] [Related]
7. Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation.
Jayandharan G; Viswabandya A; Baidya S; Nair SC; Shaji RV; Chandy M; Srivastava A
J Thromb Haemost; 2005 Jul; 3(7):1446-53. PubMed ID: 15892853
[TBL] [Abstract][Full Text] [Related]
8. Full-length cDNA cloning and protein three-dimensional structure modeling of porcine prothrombin.
Chen Y; Tan W; Lu X; Lu Y; Qin S; Li S; Zeng Y; Bu H; Li Y; Cheng J
Blood Cells Mol Dis; 2007; 38(2):93-9. PubMed ID: 17188533
[TBL] [Abstract][Full Text] [Related]
9. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
10. Congenital prothrombin deficiency: an update.
Lancellotti S; Basso M; De Cristofaro R
Semin Thromb Hemost; 2013 Sep; 39(6):596-606. PubMed ID: 23852823
[TBL] [Abstract][Full Text] [Related]
11. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.
Saunders RE; Shiltagh N; Gomez K; Mellars G; Cooper C; Perry DJ; Tuddenham EG; Perkins SJ
Thromb Haemost; 2009 Aug; 102(2):287-301. PubMed ID: 19652879
[TBL] [Abstract][Full Text] [Related]
12. Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.
Poort SR; Michiels JJ; Reitsma PH; Bertina RM
Thromb Haemost; 1994 Dec; 72(6):819-24. PubMed ID: 7740448
[TBL] [Abstract][Full Text] [Related]
13. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S; Serre V; Chadefaux-Vekemans B; Aupetit J; Romano S; De Lonlay P; Rival JM; Munnich A; Steffann J; Bonnefont JP
Hum Mutat; 2009 May; 30(5):734-40. PubMed ID: 19306334
[TBL] [Abstract][Full Text] [Related]
14. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L; de Koning TJ; Geboers AJ; van den Berg IE; Berger R; Klomp LW
Hum Mutat; 2009 May; 30(5):749-56. PubMed ID: 19235232
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
Edelheit O; Hanukoglu I; Gizewska M; Kandemir N; Tenenbaum-Rakover Y; Yurdakök M; Zajaczek S; Hanukoglu A
Clin Endocrinol (Oxf); 2005 May; 62(5):547-53. PubMed ID: 15853823
[TBL] [Abstract][Full Text] [Related]
17. CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool.
Saunders RE; Perkins SJ
Hum Mutat; 2008 Mar; 29(3):333-44. PubMed ID: 18058827
[TBL] [Abstract][Full Text] [Related]
18. Characterization of zebrafish full-length prothrombin cDNA and linkage group mapping.
Jagadeeswaran P; Gregory M; Zhou Y; Zon L; Padmanabhan K; Hanumanthaiah R
Blood Cells Mol Dis; 2000 Oct; 26(5):479-89. PubMed ID: 11112385
[TBL] [Abstract][Full Text] [Related]
19. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
[TBL] [Abstract][Full Text] [Related]
20. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.
Jayandharan G; Shaji RV; Baidya S; Nair SC; Chandy M; Srivastava A
Haemophilia; 2005 Sep; 11(5):481-91. PubMed ID: 16128892
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
