Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 97

1.

Three novel mutations of antithrombin inducing high-molecular-mass compounds.

Emmerich J, Vidaud D, Alhenc-Gelas M, Chadeuf G, Gouault-Heilmann M, Aillaud MF, Aiach M.

Arterioscler Thromb. 1994 Dec;14(12):1958-65.

PMID:
7981186
[PubMed - indexed for MEDLINE]
Free Article
2.

Deletion of P1 arginine in a novel antithrombin variant (antithrombin London) abolishes inhibitory activity but enhances heparin affinity and is associated with early onset thrombosis.

Raja SM, Chhablani N, Swanson R, Thompson E, Laffan M, Lane DA, Olson ST.

J Biol Chem. 2003 Apr 18;278(16):13688-95. Epub 2003 Feb 18.

PMID:
12591924
[PubMed - indexed for MEDLINE]
Free Article
3.

Antithrombin-TRI (Ala382 to Thr) causing severe thromboembolic tendency undergoes the S-to-R transition and is associated with a plasma-inactive high-molecular-weight complex of aggregated antithrombin.

Lindo VS, Kakkar VV, Learmonth M, Melissari E, Zappacosta F, Panico M, Morris HR.

Br J Haematol. 1995 Mar;89(3):589-601.

PMID:
7734359
[PubMed - indexed for MEDLINE]
4.

Antithrombins Southport (Leu 99 to Val) and Vienna (Gln 118 to Pro): two novel antithrombin variants with abnormal heparin binding.

Chowdhury V, Mille B, Olds RJ, Lane DA, Watton J, Barrowcliffe TW, Pabinger I, Woodcock BE, Thein SL.

Br J Haematol. 1995 Mar;89(3):602-9.

PMID:
7734360
[PubMed - indexed for MEDLINE]
5.

Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.

Gandrille S, Alhenc-Gelas M, Gaussem P, Aillaud MF, Dupuy E, Juhan-Vague I, Aiach M.

Blood. 1993 Jul 1;82(1):159-68.

PMID:
8324221
[PubMed - indexed for MEDLINE]
Free Article
6.

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

Okajima K, Abe H, Maeda S, Motomura M, Tsujihata M, Nagataki S, Okabe H, Takatsuki K.

Blood. 1993 Mar 1;81(5):1300-5.

PMID:
8443391
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
8865520
[PubMed - indexed for MEDLINE]
8.

Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

David D, Ribeiro S, Ferrão L, Gago T, Crespo F.

Am J Hematol. 2004 Jun;76(2):163-71.

PMID:
15164384
[PubMed - indexed for MEDLINE]
9.

Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene.

Picard V, Bura A, Emmerich J, Alhenc-Gelas M, Biron C, Houbouyan-Reveillard LL, Molho P, Labatide-Alanore A, Sié P, Toulon P, Verdy E, Aiach M.

Br J Haematol. 2000 Sep;110(3):731-4.

PMID:
10997988
[PubMed - indexed for MEDLINE]
10.

Pleiotropic effects of antithrombin strand 1C substitution mutations.

Lane DA, Olds RJ, Conard J, Boisclair M, Bock SC, Hultin M, Abildgaard U, Ireland H, Thompson E, Sas G, et al.

J Clin Invest. 1992 Dec;90(6):2422-33.

PMID:
1469094
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia.

Koopman J, Haverkate F, Grimbergen J, Lord ST, Mosesson MW, DiOrio JP, Siebenlist KS, Legrand C, Soria J, Soria C, et al.

J Clin Invest. 1993 Apr;91(4):1637-43.

PMID:
8473507
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Five antithrombin variants, four associated with thrombosis.

Fitton HL, Walker ID, Jones L, Brown K, Carrell RW, Coughlin P.

Blood Coagul Fibrinolysis. 1997 Mar;8(2):145-8.

PMID:
9518046
[PubMed - indexed for MEDLINE]
13.

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.

Tvrdik T, Marcus S, Hou SM, Fält S, Noori P, Podlutskaja N, Hanefeld F, Strømme P, Lambert B.

Hum Genet. 1998 Sep;103(3):311-8.

PMID:
9799086
[PubMed - indexed for MEDLINE]
14.

Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.

Hölzl B, Kraft HG, Wiebusch H, Sandhofer A, Patsch J, Sandhofer F, Paulweber B.

J Lipid Res. 2000 May;41(5):734-41.

PMID:
10787434
[PubMed - indexed for MEDLINE]
Free Article
15.

A novel amino acid substitution in the reactive site of a congenital variant antithrombin. Antithrombin pescara, ARG393 to pro, caused by a CGT to CCT mutation.

Lane DA, Erdjument H, Thompson E, Panico M, Di Marzo V, Morris HR, Leone G, De Stefano V, Thein SL.

J Biol Chem. 1989 Jun 15;264(17):10200-4.

PMID:
2722864
[PubMed - indexed for MEDLINE]
Free Article
16.

Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group.

Ireland H, Thompson E, Lane DA.

Thromb Haemost. 1996 Dec;76(6):867-73.

PMID:
8972002
[PubMed - indexed for MEDLINE]
17.

Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia.

Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL.

Biochemistry. 1993 Apr 27;32(16):4216-24.

PMID:
8476848
[PubMed - indexed for MEDLINE]
18.

Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.

Miyata T, Sato Y, Ishikawa J, Okada H, Takeshita S, Sakata T, Kokame K, Kimura R, Honda S, Kawasaki T, Suehisa E, Tsuji H, Madoiwa S, Sakata Y, Kojima T, Murata M, Ikeda Y.

Thromb Res. 2009 May;124(1):14-8. doi: 10.1016/j.thromres.2008.08.020. Epub 2008 Oct 26.

PMID:
18954896
[PubMed - indexed for MEDLINE]
19.

Factors XWenatchee I and II: compound heterozygosity involving two variant proteins.

Kim DJ, Thompson AR, Nash DR, James HL.

Biochim Biophys Acta. 1995 Jun 9;1271(2-3):327-34.

PMID:
7605799
[PubMed - indexed for MEDLINE]
20.

Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gln and Cys-331 to Arg, leading to impaired secretion of mutant protein C.

Sugahara Y, Miura O, Hirosawa S, Aoki N.

Thromb Haemost. 1994 Dec;72(6):814-8.

PMID:
7740447
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk