BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

76 related articles for article (PubMed ID: 7792730)

  • 1. Prothrombin Frankfurt: a dysfunctional prothrombin characterized by substitution of Glu-466 by Ala.
    Degen SJ; McDowell SA; Sparks LM; Scharrer I
    Thromb Haemost; 1995 Feb; 73(2):203-9. PubMed ID: 7792730
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prothrombin Scranton: substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia.
    Sun WY; Smirnow D; Jenkins ML; Degen SJ
    Thromb Haemost; 2001 Apr; 85(4):651-4. PubMed ID: 11341500
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia.
    Iwahana H; Yoshimoto K; Shigekiyo T; Shirakami A; Saito S; Itakura M
    Int J Hematol; 1992 Feb; 55(1):93-100. PubMed ID: 1349838
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively.
    Miyata T; Kojima T; Suzuki K; Umeyama H; Yamazaki T; Kamiya T; Toyoda H; Kato H
    Thromb Haemost; 1998 Mar; 79(3):486-90. PubMed ID: 9531027
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
    Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene.
    Doig RG; Begley CG; McGrath KM
    Thromb Haemost; 1994 Aug; 72(2):203-8. PubMed ID: 7831652
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building.
    Miyata T; Sakata T; Zheng YZ; Tsukamoto H; Umeyama H; Uchiyama S; Ikusaka M; Yoshioka A; Imanaka Y; Fujimura H; Kambayashi J; Kato H
    Thromb Haemost; 1996 Sep; 76(3):302-11. PubMed ID: 8883262
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 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. 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]  

  • 12. The DNA-binding capacity of genetic variants of the bovine STAT5A transcription factor.
    Flisikowski K; Szymanowska M; Zwierzchowski L
    Cell Mol Biol Lett; 2003; 8(3):831-40. PubMed ID: 12949622
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
    Piri N; Gao YQ; Danciger M; Mendoza E; Fishman GA; Farber DB
    Ophthalmology; 2005 Jan; 112(1):159-66. PubMed ID: 15629837
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Polymorphism of human complement component C6: an amino acid substitution (Glu/Ala) within the second thrombospondin repeat differentiates between the two common allotypes C6 A and C6 B.
    Dewald G; Nöthen MM; Cichon S
    Biochem Biophys Res Commun; 1993 Jul; 194(1):458-64. PubMed ID: 8101442
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and western blot analyses is responsible for the type C of Hungarian acatalasemia.
    Góth L; Rass P; Madarasi I
    Electrophoresis; 2001 Jan; 22(1):49-51. PubMed ID: 11197178
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family.
    Ma L; Wang H; Chen J; Jin W; Liu L; Ban B; Shen J; Hua Z; Chai J
    Chin Med J (Engl); 2000 Feb; 113(2):111-6. PubMed ID: 11775531
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain.
    Ohiwa M; Hayashi T; Wada H; Minamikawa K; Shirakawa S; Suzuki K
    Thromb Haemost; 1994 Jun; 71(6):773-7. PubMed ID: 7974346
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency.
    Horiuchi T; Ferrer JM; Serra P; Matamoros N; López-Trascasa M; Hashimura C; Niho Y
    J Hum Genet; 1999; 44(3):215-8. PubMed ID: 10319591
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
    J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exon/intron boundaries, novel polymorphisms, and association analysis with schizophrenia of the human synaptic vesicle monoamine transporter (SVMT) gene.
    Kunugi H; Ishida S; Akahane A; Nanko S
    Mol Psychiatry; 2001 Jul; 6(4):456-60. PubMed ID: 11443533
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.