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Items: 1 to 20 of 137

1.

Recurrent deletion in the human antithrombin III gene.

Grundy CB, Thomas F, Millar DS, Krawczak M, Melissari E, Lindo V, Moffat E, Kakkar VV, Cooper DN.

Blood. 1991 Aug 15;78(4):1027-32.

2.

A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.

Olds RJ, Lane DA, Finazzi G, Barbui T, Thein SL.

Blood. 1990 Dec 1;76(11):2182-6.

3.

Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.

Vidaud D, Emmerich J, Sirieix ME, Sié P, Alhenc-Gelas M, Aiach M.

Blood. 1991 Nov 1;78(9):2305-9.

4.

Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.

Emmerich J, Chadeuf G, Alhenc-Gelas M, Gouault-Heilman M, Toulon P, Fiessinger JN, Aiach M.

Thromb Haemost. 1994 Oct;72(4):534-9.

PMID:
7878627
5.

Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

Gandrille S, Vidaud D, Emmerich J, Clauser E, Sié P, Fiessinger JN, Alhenc-Gelas M, Priollet P, Aiach M.

Br J Haematol. 1991 Jul;78(3):414-20.

PMID:
1873224
6.

Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.

Olds RJ, Lane DA, Ireland H, Leone G, De Stefano V, Wiesel ML, Cazenave JP, Thein SL.

Br J Haematol. 1991 Jul;78(3):408-13.

PMID:
1873223
7.

Partial deletion of an antithrombin III allele in a kindred with a type 1 deficiency.

Fernandez-Rachubinski F, Rachubinski RA, Blajchman MA.

Blood. 1992 Sep 15;80(6):1476-85.

9.

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.

10.

Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

Jochmans K, Lissens W, Vervoort R, Peeters S, De Waele M, Liebaers I.

Blood. 1994 Jan 1;83(1):146-51.

11.

Identification of the antithrombin III Kyoto mutation by restriction fragment length polymorphism analysis.

Masuda H, Tsuji H, Nakagawa K, Nakahara Y, Kitamura H, Ogasahara Y, Nakagawa M.

Int J Hematol. 1995 Jun;61(4):197-204.

PMID:
8547608
12.

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

Casula L, Murru S, Pecorara M, Ristaldi MS, Restagno G, Mancuso G, Morfini M, De Biasi R, Baudo F, Carbonara A, et al.

Blood. 1990 Feb 1;75(3):662-70.

13.

Type I antithrombin deficiency: five novel mutations associated with thrombosis.

Daly M, Perry DJ, Bruce DB, Harper PL, Tait RC, Walker ID, Mayne EE, Daly HM, Brown K, Carrell RW.

Blood Coagul Fibrinolysis. 1996 Mar;7(2):139-43.

PMID:
8735803
14.

Molecular heterogeneity of inherited antithrombin III deficiency.

Prochownik EV, Antonarakis S, Bauer KA, Rosenberg RD, Fearon ER, Orkin SH.

N Engl J Med. 1983 Jun 30;308(26):1549-52.

PMID:
6304514
15.

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
16.

Molecular characterization of antithrombin III (ATIII) variants using polymerase chain reaction. Identification of the ATIII Charleville as an Ala 384 Pro mutation.

Molho-Sabatier P, Aiach M, Gaillard I, Fiessinger JN, Fischer AM, Chadeuf G, Clauser E.

J Clin Invest. 1989 Oct;84(4):1236-42.

17.

Two new nonsense mutations in type Ia antithrombin III deficiency at Leu 140 and Arg 197.

Tomonari A, Iwahana H, Yoshimoto K, Shigekiyo T, Saito S, Itakura M.

Thromb Haemost. 1992 Oct 5;68(4):455-9.

PMID:
1360174
19.

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
20.

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.

PMID:
7482398

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