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Thromb Haemost 1990; 63(02): 231-234
DOI: 10.1055/s-0038-1645200
Original Article
Schattauer GmbH Stuttgart

Antithrombin III Kumamoto: Identification of a Point Mutation and Genotype Analysis of the Family

Hidetsugu Ueyama
1   The First Department of Internal Medicine, Kumamoto University Medical School, Kumamoto, Japan
,
Tatsufumi Murakami
1   The First Department of Internal Medicine, Kumamoto University Medical School, Kumamoto, Japan
2   Department of Biochemistry, Kumamoto University Medical School, Kumamoto, Japan
,
Seiji Nishiguchi
1   The First Department of Internal Medicine, Kumamoto University Medical School, Kumamoto, Japan
2   Department of Biochemistry, Kumamoto University Medical School, Kumamoto, Japan
,
Shuichiro Maeda
2   Department of Biochemistry, Kumamoto University Medical School, Kumamoto, Japan
,
Yoichiro Hashimoto
1   The First Department of Internal Medicine, Kumamoto University Medical School, Kumamoto, Japan
,
Kenji Okajima
3   Department of Laboratory Medicine, Kumamoto University Medical School, Kumamoto, Japan
,
Kazunori Shimada
2   Department of Biochemistry, Kumamoto University Medical School, Kumamoto, Japan
,
Shukuro Araki
1   The First Department of Internal Medicine, Kumamoto University Medical School, Kumamoto, Japan
› Institutsangaben
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Publikationsverlauf

Received 08. August 1989

Accepted after revision 19. Dezember 1989

Publikationsdatum:
24. Juli 2018 (online)

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Summary

We previously reported a variant antithrombin III (AT III Kumamoto) associated with a 31-year-old female who suffered from recurrent thrombotic episodes (1). To define the molecular basis for the variant AT III, we used a combination of genomic amplification followed by cloning, sequencing, and hybridization with allele-specific oligonucleotide probes. We obtained evidence for a cytosine to thymine transition in exon 2 (codon 47) of the AT III gene in the proband. This mutation converts arginine 47 to cysteine. Oligonucleotide hybridization procedures were used for confirmation of the mutation and for genotype analysis of the family members

 

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