118 related articles for article (PubMed ID: 7974339)
1. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene.
Gómez E; Ledford MR; Pegelow CH; Reitsma PH; Bertina RM
Thromb Haemost; 1994 Jun; 71(6):723-6. PubMed ID: 7974339
[TBL] [Abstract][Full Text] [Related]
2. Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency.
Pung-amritt P; Poort SR; Vos HL; Bertina RM; Mahasandana C; Tanphaichitr VS; Veerakul G; Kankirawatana S; Suvatte V
Thromb Haemost; 1999 Feb; 81(2):189-92. PubMed ID: 10063989
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
Andersen BD; Lind B; Philips M; Hansen AB; Ingerslev J; Thorsen S
Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
[TBL] [Abstract][Full Text] [Related]
5. Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.
Gómez E; Poort SR; Bertina RM; Reitsma PH
Thromb Haemost; 1995 May; 73(5):750-5. PubMed ID: 7482398
[TBL] [Abstract][Full Text] [Related]
6. [A novel gene mutation in a congenital protein S deficiency pedigree].
Liu L; He L; Yang S
Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):457-60. PubMed ID: 11758223
[TBL] [Abstract][Full Text] [Related]
7. A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
D'Andrea G; Di Perna P; Brancaccio V; Faioni EM; Castaman G; Cibelli G; Di Minno G; Margaglione M;
Haematologica; 2003 Apr; 88(4):459-64. PubMed ID: 12681974
[TBL] [Abstract][Full Text] [Related]
8. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
Okada H; Takagi A; Murate T; Adachi T; Yamamoto K; Matsushita T; Takamatsu J; Sugita K; Sugimoto M; Yoshioka A; Yamazaki T; Saito H; Kojima T
Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143
[TBL] [Abstract][Full Text] [Related]
9. A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26.
Ido M; Ohiwa M; Hayashi T; Nishioka J; Hatada T; Watanabe Y; Wada H; Shirakawa S; Suzuki K
Thromb Haemost; 1993 Oct; 70(4):636-41. PubMed ID: 8115990
[TBL] [Abstract][Full Text] [Related]
10. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.
Lin Z; deMello DE; Wallot M; Floros J
Mol Genet Metab; 1998 May; 64(1):25-35. PubMed ID: 9682215
[TBL] [Abstract][Full Text] [Related]
11. Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation.
Abu-Amero KK; Al-Hamed MH; Al-Batniji FS
Blood Coagul Fibrinolysis; 2003 Apr; 14(3):303-6. PubMed ID: 12695756
[TBL] [Abstract][Full Text] [Related]
12. Factor XIII(A) subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene.
Aslam S; Bowen DJ; Mandalaki T; Gialeraki R; Standen GR
Am J Hematol; 1996 Oct; 53(2):77-80. PubMed ID: 8892731
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
Mizukami K; Nakabayashi T; Naitoh S; Takeda M; Tarumi T; Mizoguchi I; Ieko M; Koike T
Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938
[TBL] [Abstract][Full Text] [Related]
15. Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.
Andersen BD; Bisgaard ML; Lind B; Philips M; Villoutreix B; Thorsen S
Thromb Haemost; 2001 Dec; 86(6):1392-9. PubMed ID: 11776305
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
Castaman G; Giacomelli SH; Ivaskevicius V; Schroeder V; Kohler HP; Dragani A; Biasioli C; Oldenburg J; Madeo D; Rodeghiero F
Haemophilia; 2008 Jan; 14(1):96-102. PubMed ID: 18028394
[TBL] [Abstract][Full Text] [Related]
18. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
Espinosa-Parrilla Y; Morell M; Souto JC; Tirado I; Fontcuberta J; Estivill X; Sala N
Hum Mutat; 1999; 14(1):30-9. PubMed ID: 10447256
[TBL] [Abstract][Full Text] [Related]
19. Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene.
Soria JM; Brito D; Barceló J; Fontcuberta J; Botero L; Maldonado J; Estivill X; Sala N
Thromb Haemost; 1994 Jul; 72(1):65-9. PubMed ID: 7974377
[TBL] [Abstract][Full Text] [Related]
20. Congenital deficiency of alpha feto-protein.
Sharony R; Zadik I; Parvari R
Eur J Hum Genet; 2004 Oct; 12(10):871-4. PubMed ID: 15280901
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
