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Titolo:
Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis
Autore:
Yamada, H; Hoshi, N; Kato, EH; Ebina, Y; Kishida, T; Sagawa, T; Matsuno, K; Fujimoto, S;
Indirizzi:
Hokkaido Univ, Sch Med, Dept Obstet & Gynecol, Kita Ku, Sapporo, Hokkaido 0608638, Japan Hokkaido Univ Sapporo Hokkaido Japan 0608638 oro, Hokkaido 0608638, Japan Coll Med Technol, Dept Lab Technol, Sapporo, Hokkaido, Japan Coll Med Technol Sapporo Hokkaido Japan echnol, Sapporo, Hokkaido, Japan
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 5, volume: 91, anno: 2000,
pagine: 348 - 350
SICI:
0148-7299(20000424)91:5<348:NM(OAI>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENCY; WOMEN; PREGNANCY; HEPARIN; RISK; DNA;
Keywords:
abortion; antithrombin; mutation; pregnancy; thrombosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Yamada, H Hokkaido Univ, Sch Med, Dept Obstet & Gynecol, Kita Ku, N15 W7, Sapporo, Hokkaido 0608638, Japan Hokkaido Univ N15 W7 Sapporo Hokkaido Japan 0608638 08638, Japan
Citazione:
H. Yamada et al., "Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis", AM J MED G, 91(5), 2000, pp. 348-350

Abstract

A 35-year-old Japanese woman with a low level (42-54%) of blood antithrombin (AT) III, experienced two induced abortions due to deep venous thrombosis at 8 weeks of gestation (GW) and cerebral thrombosis at 10 GW, The present pregnancy was successfully managed with intravenous administration of AT III (6,000-8,000 U/wk), Analysis of polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) for exons 3A and 4 of the AT III gene (AT3) using her DNA revealed extra expansion bands with altered migration. The DNA sequencing demonstrated novel mutations in exon 3A of AT3: a G to T substitution at nucleotide position 5333 in codon GAG for Glu 113, causing a stop codon (E113X), and an A to T substitution at position 5338 in codon AAA for Lys 114, forming Asn (K114N). These novel mutations, especiallyE113X, in AT3 may be related to recurrent thrombosis in the pregnancy. (C)2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 08:47:12