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Items: 1 to 20 of 163

1.

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
2.

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.

3.

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
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.

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
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.

PMID:
8865520
7.

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.

8.

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.

9.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
10.

Congenital antithrombin III deficiency (AT-III Kyoto): identification of a point mutation altering arginine-406 to methionine behind the reactive site.

Nakagawa M, Tanaka S, Tsuji H, Takada O, Uno M, Hashimoto-Gotoh T, Wagatsuma M.

Thromb Res. 1991 Oct 1;64(1):101-8.

PMID:
1776135
11.

Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

van Boven HH, Olds RJ, Thein SL, Reitsma PH, Lane DA, Briët E, Vandenbroucke JP, Rosendaal FR.

Blood. 1994 Dec 15;84(12):4209-13.

12.

Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

Bock SC, Marrinan JA, Radziejewska E.

Biochemistry. 1988 Aug 9;27(16):6171-8. Erratum in: Biochemistry 1989 Apr 18;28(8):3628.

PMID:
3191114
13.

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
14.

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.

15.

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.

16.

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.

17.

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
18.

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
19.

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.

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