Two New Nonsense Mutations in Type Ia Antithrombin III Deficiency at Leu 140 and Arg 197

Tomonari, Akira; Iwahana, Hiroyuki; Yoshimoto, Katsuhiko; Shigekiyo, Toshio; Saito, Shiro; Itakura, Mitsuo

doi:10.1055/s-0038-1646296

Cited by 11 publications

(2 citation statements)

References 24 publications

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“…Substitution mutations producing pleiotropic or multiple effects on the function of the inhibitor (which were listed previously as type I b cases) now account for 13 variants that have been successfully studied and these arise from 9 distinct molecular defects, Thble 5. Since this subgrouping is a relatively new s8 (31) 67 (30) sltst (23) <60 (32) 4et30 (23) ss (33) s3 (33) <60 (32) 6s (24) <60 (32) s7 (24) 40 (34) <60 (3s) se (24) 6U6e (23) s0 (36) <60 (28) Emmerich et al Unpublished (24) 30 (26) 48 (26) Entries in bold and italics were the fint report of this mutation…”

Section: The Databasementioning

confidence: 99%

Antithrombin III Mutation Database: First Update

et al. 1993

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An antithrombin III mutation database was collated and published in L99L by a group of investigators working on the molecular basis of antithrombin III deficiency (1). Soon after, under the auspices of the ISTH SSC, an Antithrombin III Working Party was formed of those involved in the preparation of the database, with the instruction to report to the "Thrombin and its Inhibitors" SSC on the developments in this and related areas. This document is one outcome of the work of the Antithrombin III Working Party and is a partial report of the deliberations of the "Thrombin and its Inhibitors" SSC Meeting held in Munich, July 1992. Other items discussed at this meeting included the nomenclature of the plasma coagulation inhibitors. Three alternative names were considered for this inhibitor, antithrombin III, antithrombin and thrombin inhibitor I. No unanimous view emerged regarding the name, other than the rejection of the term thrombin inhibitor I. For this report, the historical name antithrombin III will be used, despite the preference for anti. thrombin by the majority of the authors of this database. This is in deference to the journal, Thrombosis and Haemostasis, pending any final decision of the SSC regarding nomenclature. The intention behind the production and updating of the antithrombin III database has been to provide a readily accessible and up-to-date source of known mutations of antithrombin III. The complex effects of some mutations on structure/function relationships of the protein can only be indicated. For more information on this and on possible mechanisms involved in gene mutation (see below for brief consideration of mutations involving CpG dinucleotides), the reader is referred to the original papers and to several reviews in this area (2-6).

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Section: The Databasementioning

confidence: 99%

Antithrombin III Mutation Database: First Update

et al. 1993

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“…(B) The blue, green, and red peaks indicate the normal control, samples, and Genescan-2500 ROX, respectively. (Lanes [1][2][3][4][5][6][7][8] in A and B) Normal control, A549, Lu65, MDA-MB231, PANC1, PSN1, SW480, and SW1116, respectively. tory, Inc., for Otsuka D e p a r t m e n t of Clinical and Molecular Nutrition, School of Medicine, The University of Tokushima.…”

Section: Discussionmentioning

confidence: 99%

Multiple fluorescence-based PCR-SSCP analysis with postlabeling.

Iwahana¹,

Adzuma²,

Takahashi³

et al. 1995

Genome Research

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Multiple fluorescence-based PCR single-strand conformation polymorphism (MF-PCR-SSCP) with postlabeling was developed. The target sequence was amplified by PCR using unlabeled primers. Free dNTPs were removed from the amplified products by ethanol precipitation. The dNTPs at the 3' ends of the amplified DNA fragments were exchanged with fluorescent dUTPs or ddNTPs using Klenow fragment of DNA polymerase I. The DNA fragments labeled with fluorescent dUTPs or ddNTPs were heat denatured and applied to a nondenaturing polyacrylamide gel set on an automated DNA sequencer with a gel temperature-controlling system. The image data were analyzed by the computer program Genescan 672. By use of MF-PCR-SSCP with postlabeling, seven different single base mutations of the human K-ras oncogene were detected even under one electrophoresis condition. MATERIALS AND METHODS Automated DNA Sequencer and Control of Gel Temperature We developed a device to control gel

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Molecular genetics of human antithrombin deficiency

Perry

Carrell

1996

Hum. Mutat.

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Two New Nonsense Mutations in Type Ia Antithrombin III Deficiency at Leu 140 and Arg 197

Cited by 11 publications

References 24 publications

Antithrombin III Mutation Database: First Update

Antithrombin III Mutation Database: First Update

Multiple fluorescence-based PCR-SSCP analysis with postlabeling.

Molecular genetics of human antithrombin deficiency

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