✦ LIBER ✦

A novel missense mutation in the antithrombin III gene (Ser349→Pro) causing recurrent venous thrombosis

✍ Scribed by Catherine B. Grundy; Steven Holding; David S. Millar; Vijay V. Kakkar; David N. Cooper

Publisher: Springer
Year: 1992
Tongue: English
Weight: 279 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf02265306

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation in the antithr

A novel missense mutation in the antithrombin III gene (Ala387→Val) causing recurrent venous thrombosis

✍ Deborah White; Ginger Abraham; Chris Carter; Vijay V. Kakkar; David N. Cooper 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 194 KB

A novel homozygous missense mutation in

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis

✍ Catherine B. Grundy; Morag Chisholm; Vijay V. Kakkar; David N. Cooper 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 199 KB

A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the conditi

Five Novel and four recurrent point muta

Five Novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis

✍ Keiko Nagaizumi; Hiroshi Inaba; Kagehiro Amano; Midori Suzuki; Morio Arai; Katsu 📂 Article 📅 2003 🏛 Carden Jennings Publishing 🌐 English ⚖ 417 KB

Screening for mutations in the antithrom

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis

✍ D. S. Millar; A. Lopez; D. White; G. Abraham; B. Laursen; S. Holding; J. C. Reve 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 298 KB

Novel mutation (E113X) of antithrombin I

Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis

✍ Yamada, Hideto; Hoshi, Nobuhiko; Kato, Emi H.; Ebina, Yasuhiko; Kishida, Tatsuro 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 1 views

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 I

A novel nonsense mutation in the protein

A novel nonsense mutation in the protein C (PROC) gene (Trp-29→Term) causing recurrent venous thrombosis

✍ D. S. Millar; C. B. Grundy; P. Bignell; D. C. Mitchell; D. Corden; P. Woods; V. 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 136 KB

A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis.