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Items: 1 to 20 of 135

1.

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.

2.

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
3.

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
4.

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
5.

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.

6.

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.

7.

Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.

Zheng YZ, Sakata T, Matsusue T, Umeyama H, Kato H, Miyata T.

Blood Coagul Fibrinolysis. 1994 Oct;5(5):687-96.

PMID:
7865674
8.

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.

9.

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.

10.

Antithrombin III Kumamoto: identification of a point mutation and genotype analysis of the family.

Ueyama H, Murakami T, Nishiguchi S, Maeda S, Hashimoto Y, Okajima K, Shimada K, Araki S.

Thromb Haemost. 1990 Apr 12;63(2):231-4. Review.

PMID:
2194315
11.

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.

12.

Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

Blajchman MA, Fernandez-Rachubinski F, Sheffield WP, Austin RC, Schulman S.

Blood. 1992 Mar 15;79(6):1428-34.

13.

Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation.

Jochmans K, Lissens W, Yin T, Michiels JJ, van der Luit L, Peerlinck K, De Waele M, Liebaers I.

Blood. 1994 Dec 1;84(11):3742-8.

14.

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
15.

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.

16.

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
17.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
18.

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
19.

Detection of two novel mutations (nt2762, exon 2, CAG to TAG, and nt2483 or 2484, exon 2, +A) in individuals with congenital type I antithrombin deficiencies.

Nakahara Y, Tsuji H, Nakagawa K, Masuda H, Kitamura H, Nishimura H, Kasahara T, Sugano T, Sawada S, Sakata T, Miyata T, Inoue N, Nakagawa M.

Blood Coagul Fibrinolysis. 1999 Jul;10(5):229-31.

PMID:
10456612
20.

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