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Items: 1 to 20 of 156

1.

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
2.

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
3.

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.

4.

Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency.

van Boven HH, Reitsma PH, Rosendaal FR, Bayston TA, Chowdhury V, Bauer KA, Scharrer I, Conard J, Lane DA.

Thromb Haemost. 1996 Mar;75(3):417-21.

PMID:
8701400
5.
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.

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.

8.

A novel antithrombin gene mutation: slippage and mispairing as a mechanism of genetic disease.

Fitches AC, May SJ, Olds RJ.

Pathology. 1996 Nov;28(4):339-42.

PMID:
9007953
9.
10.

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
11.

[Restriction fragment length polymorphisms of the antithrombin III gene--examination of the normal Japanese, abnormal AT III (Toyama) and AT III deficient families].

Oguma Y, Sakuragawa N, Hiraga K.

Rinsho Byori. 1989 Apr;Spec No 81:64-74. Japanese. No abstract available.

PMID:
2569046
12.
13.
14.

An overview of the mechanism of action of antithrombin and its inherited deficiency states.

Blajchman MA.

Blood Coagul Fibrinolysis. 1994 Jan;5 Suppl 1:S5-11; discussion S59-64. Review.

PMID:
8186357
15.

Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene.

Bock SC, Harris JF, Schwartz CE, Ward JH, Hershgold EJ, Skolnick MH.

Am J Hum Genet. 1985 Jan;37(1):32-41.

16.

Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds.

Sacks SH, Old JM, Reeders ST, Weatherall DJ, Douglas AS, Winter JH, Rizza CR.

J Med Genet. 1988 Jan;25(1):20-4.

17.
19.

Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency.

de la Morena-Barrio ME, Antón AI, Martínez-Martínez I, Padilla J, Miñano A, Navarro-Fernández J, Águila S, López MF, Fontcuberta J, Vicente V, Corral J.

Thromb Haemost. 2012 Mar;107(3):430-7. doi: 10.1160/TH11-10-0701. Epub 2012 Jan 11.

PMID:
22234719
20.

[A family with an estrogen-related thrombotic tendency and hereditary deficiency on antithrombin].

Brandt P.

Ugeskr Laeger. 1981;143(34):2141-5. Danish. No abstract available.

PMID:
7281334

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