204 related articles for article (PubMed ID: 12681974)
21. [Protein S deficiency in three patients with thrombosis].
Minami R; Urata M; Kurihara M; Hara K; Abe Y; Muta K; Nawata H
Rinsho Ketsueki; 2001 Aug; 42(8):610-5. PubMed ID: 11579499
[TBL] [Abstract][Full Text] [Related]
22. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
Zhang DL; Ji L; Li YD
Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601
[TBL] [Abstract][Full Text] [Related]
23. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
Borgel D; Gandrille S; Gouault-Heilmann M; Aiach M
Blood Coagul Fibrinolysis; 1994 Aug; 5(4):593-600. PubMed ID: 7841316
[TBL] [Abstract][Full Text] [Related]
24. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
[TBL] [Abstract][Full Text] [Related]
25. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.
Freddi S; Savarirayan R; Bateman JF
Am J Med Genet; 2000 Feb; 90(5):398-406. PubMed ID: 10706362
[TBL] [Abstract][Full Text] [Related]
26. Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
Hurtado B; Muñoz X; Mulero MC; Navarro G; Domènech P; García de Frutos P; Pérez-Riba M; Sala N
Haematologica; 2008 Apr; 93(4):574-80. PubMed ID: 18322254
[TBL] [Abstract][Full Text] [Related]
27. N34S mutation in the SPINK1 gene is not associated with alternative splicing.
Masamune A; Kume K; Takagi Y; Kikuta K; Satoh K; Satoh A; Shimosegawa T
Pancreas; 2007 May; 34(4):423-8. PubMed ID: 17446841
[TBL] [Abstract][Full Text] [Related]
28. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
29. SHBG region of the anticoagulant cofactor protein S: secondary structure prediction, circular dichroism spectroscopy, and analysis of naturally occurring mutations.
Villoutreix BO; García de Frutos P; Lövenklev M; Linse S; Fernlund P; Dahlbäck B
Proteins; 1997 Dec; 29(4):478-91. PubMed ID: 9408945
[TBL] [Abstract][Full Text] [Related]
30. Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
Espinosa-Parrilla Y; Morell M; Borrell M; Souto JC; Fontcuberta J; Estivill X; Sala N
Hum Mutat; 2000; 15(5):463-73. PubMed ID: 10790208
[TBL] [Abstract][Full Text] [Related]
31. Biochemical activity and gene analysis of inherited protein C and antithrombin deficiency in two Chinese pedigrees.
Zhou RF; Fu QH; Wang WB; Xie S; Hu YQ; Wang XF; Wang ZY; Wang HL
Chin Med J (Engl); 2004 Jun; 117(6):813-7. PubMed ID: 15198878
[TBL] [Abstract][Full Text] [Related]
32. Identification of three novel mutations in hereditary protein S deficiency.
Bustorff TC; Freire I; Gago T; Crespo F; David D
Thromb Haemost; 1997 Jan; 77(1):21-5. PubMed ID: 9031443
[TBL] [Abstract][Full Text] [Related]
33. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
[TBL] [Abstract][Full Text] [Related]
34. Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.
Wu Y; Kuivaniemi H; Tromp G; Strobel D; Romanic AM; Prockop DJ
Hum Mutat; 1993; 2(1):28-36. PubMed ID: 8477261
[TBL] [Abstract][Full Text] [Related]
35. Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.
Hermida J; Faioni EM; Mannucci PM
Thromb Haemost; 1999 Dec; 82(6):1634-8. PubMed ID: 10613647
[TBL] [Abstract][Full Text] [Related]
36. A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.
Katsumata N; Matsuo S; Sato N; Tanaka T
Growth Horm IGF Res; 2001 Dec; 11(6):378-83. PubMed ID: 11914025
[TBL] [Abstract][Full Text] [Related]
37. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
Goto M; Katsumata N
Horm Res; 2009; 71(2):120-4. PubMed ID: 19129717
[TBL] [Abstract][Full Text] [Related]
38. A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
Redonnet-Vernhet I; Chatelut M; Salvayre R; Levade T
Hum Mutat; 1998; 11(4):335-6. PubMed ID: 9554751
[TBL] [Abstract][Full Text] [Related]
39. Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.
Shirakawa K; Takahashi Y; Miyajima H
Neurology; 2006 Mar; 66(6):925-7. PubMed ID: 16567715
[TBL] [Abstract][Full Text] [Related]
40. A novel point mutation of the splicing donor site in the intron 2 of the plasmin inhibitor gene.
Yoshinaga H; Hirosawa S; Chung DH; Miyasaka N; Aoki N; Favier R
Thromb Haemost; 2000 Aug; 84(2):307-11. PubMed ID: 10959705
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]