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Journal Abstract Search

140 related items for PubMed ID: 1469096

  • 21. [A point mutation of protein C gene in a congenital protein C deficiency pedigree].
    Liu L, Guo WR, He LS, Mu H, Jiang Y, Huang FQ, Li JZ.
    Zhonghua Xue Ye Xue Za Zhi; 2003 Mar; 24(3):115-8. PubMed ID: 12697119
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.
    Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U.
    Hum Mutat; 1992 Jun; 1(1):24-32. PubMed ID: 1284474
    [Abstract] [Full Text] [Related]

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  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.
    Soria JM, Morell M, Jiménez-Astorga C, Estivill X, Sala N.
    Thromb Haemost; 1995 Nov; 74(5):1215-20. PubMed ID: 8607097
    [Abstract] [Full Text] [Related]

  • 27. Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III.
    Kamura T, Okamura T, Murakawa M, Tsuda H, Teshima T, Shibuya T, Harada M, Niho Y.
    J Clin Invest; 1992 Aug; 90(2):315-9. PubMed ID: 1644910
    [Abstract] [Full Text] [Related]

  • 28. Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
    Gandrille S, Vidaud M, Aiach M, Alhenc-Gelas M, Fischer AM, Gouault-Heilman M, Toulon P, Fiessinger JN, Goossens M.
    Hum Mutat; 1992 Aug; 1(6):491-500. PubMed ID: 1301959
    [Abstract] [Full Text] [Related]

  • 29. Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families.
    Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N.
    Hum Mutat; 1992 Aug; 1(5):428-31. PubMed ID: 1301954
    [Abstract] [Full Text] [Related]

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  • 31. Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
    Takagi A, Ikeda Y, Tsutsumi Z, Shoji T, Yamamoto A.
    J Clin Invest; 1992 Feb; 89(2):581-91. PubMed ID: 1737848
    [Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. Dominantly Inherited beta-Thalassemia.
    Efremov GD.
    Hemoglobin; 2007 Aug; 31(2):193-207. PubMed ID: 17486503
    [Abstract] [Full Text] [Related]

  • 34. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
    Garbarz M, Tse WT, Gallagher PG, Picat C, Lecomte MC, Galibert F, Dhermy D, Forget BG.
    J Clin Invest; 1991 Jul; 88(1):76-81. PubMed ID: 2056132
    [Abstract] [Full Text] [Related]

  • 35. Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency.
    Yamazaki T, Katsumi A, Okamoto Y, Takafuta T, Tsuzuki S, Kagami K, Sugiura I, Kojima T, Fujimura K, Saito H.
    Thromb Haemost; 1997 Jan; 77(1):14-20. PubMed ID: 9031442
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  • 37. Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) to stop codon (TGA).
    Nakagawa K, Tsuji H, Masuda H, Kitamura H, Nakahara Y, Ogasahara Y, Okajima Y, Sawada S, Nakagawa M.
    Int J Hematol; 1994 Dec; 60(4):273-80. PubMed ID: 7894031
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  • 39. Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.
    Tsay W, Greengard JS, Montgomery RR, McPherson RA, Fucci JC, Koerper MA, Coughlin J, Griffin JH.
    Blood Coagul Fibrinolysis; 1993 Oct; 4(5):791-6. PubMed ID: 8292730
    [Abstract] [Full Text] [Related]

  • 40. 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
    [Abstract] [Full Text] [Related]

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