These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

65 related articles for article (PubMed ID: 7594510)

  • 1. Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.
    Saucedo L; Ackermann L; Platonov AE; Gewurz A; Rakita RM; Densen P
    J Immunol; 1995 Nov; 155(10):5022-8. PubMed ID: 7594510
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic basis of human complement C8 beta deficiency.
    Kaufmann T; Hänsch G; Rittner C; Späth P; Tedesco F; Schneider PM
    J Immunol; 1993 Jun; 150(11):4943-7. PubMed ID: 8098723
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Further study on heterogeneic basis of complement C8 beta deficiency].
    Rao L; Li YB; Chen GD; Zhou B; Schneider PM; Zhang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):10-3. PubMed ID: 14767900
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Detection of heterozygous C8 beta deficiency by PCR in a healthy Italian population.
    Bellavia D; Schneider PM; Rittner C; Malfitano G; Kaufmann TJ; Brai M
    Exp Clin Immunogenet; 1996; 13(3-4):173-80. PubMed ID: 9165271
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic basis of human complement C8 alpha-gamma deficiency.
    Kojima T; Horiuchi T; Nishizaka H; Fukumori Y; Amano T; Nagasawa K; Niho Y; Hayashi K
    J Immunol; 1998 Oct; 161(7):3762-6. PubMed ID: 9759902
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype.
    Yang Y; Wang L; Wang C; Chen H; Guo Z; Zhang Y; Zhu Z
    Transfus Med; 2009 Oct; 19(5):235-44. PubMed ID: 19747286
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new HLA-A1 mutation: a novel, null variant allele.
    Henry JB; Hubbell CA; Davis MC; Fernandez-Vina MA; Yunis EJ; Shrimpton AE
    Am J Clin Pathol; 2004 Aug; 122(2):185-92. PubMed ID: 15323134
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic bases of human complement C7 deficiency.
    Nishizaka H; Horiuchi T; Zhu ZB; Fukumori Y; Volanakis JE
    J Immunol; 1996 Nov; 157(9):4239-43. PubMed ID: 8892662
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene.
    Liu HM; Lin JS; Chen PS; Lyou JY; Chen YJ; Tzeng CH
    Transfusion; 2009 Feb; 49(2):259-64. PubMed ID: 18980618
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations.
    Ittiprasert W; Kantachuvesiri S; Pavasuthipaisit K; Verasertniyom O; Chaomthum L; Totemchokchyakarn K; Kitiyanant Y
    J Autoimmun; 2005 Aug; 25(1):77-84. PubMed ID: 15998580
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia.
    Coon H; Sobell J; Heston L; Sommer S; Hoff M; Holik J; Umar F; Robertson M; Reimherr F; Wender P
    Am J Med Genet; 1994 Mar; 54(1):12-20. PubMed ID: 8178835
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.
    Witzel-Schlömp K; Späth PJ; Hobart MJ; Fernie BA; Rittner C; Kaufmann T; Schneider PM
    J Immunol; 1997 May; 158(10):5043-9. PubMed ID: 9144525
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Molecular-genetic characteristics of alpha, beta and delta beta-thalassemias in 139 heterozygotes in 56 unrelated Czech and Slovak families (Priority description of 3 beta-thalassemia mutations, an extensive alpha-thalassemia 2 (18+ kb) deletion and a Swiss-type nondeletion hereditary persistence of hemoglobin F)].
    Indrák K; Divoký V; Brabec V; Indráková J; Svobodová M; Huisman TH
    Vnitr Lek; 1993 Oct; 39(10):969-78. PubMed ID: 7694425
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The eighth component of human complement: molecular basis of C8A (C81) polymorphism.
    Zhang L; Rittner C; Sodetz JM; Schneider PM; Kaufmann T
    Hum Genet; 1995 Sep; 96(3):281-4. PubMed ID: 7649542
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
    Urbán Z; Zhang J; Davis EC; Maeda GK; Kumar A; Stalker H; Belmont JW; Boyd CD; Wallace MR
    Hum Genet; 2001 Nov; 109(5):512-20. PubMed ID: 11735026
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Twenty two novel mutations of the factor VII gene in factor VII deficiency.
    Wulff K; Herrmann FH
    Hum Mutat; 2000; 15(6):489-96. PubMed ID: 10862079
    [TBL] [Abstract][Full Text] [Related]  

  • 20. HLA-B*0749N: the first HLA-B*07 null allele.
    Perrier P; Dormoy A; Proust B; Froelich N; Bastien A
    Tissue Antigens; 2007 Oct; 70(4):341-3. PubMed ID: 17767560
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.