✦ LIBER ✦

Twenty two novel mutations of the factor VII gene in factor VII deficiency

✍ Scribed by Karin Wulff; Falko H. Herrmann

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 222 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200006)15:6<489::aid-humu1>3.0.co;2-j

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Factor VII deficiency and the FVII mutat

Factor VII deficiency and the FVII mutation database

✍ John H. McVey; Emma Boswell; Andrew D. Mumford; Geoffrey Kemball-Cook; Edward G. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 476 KB 👁 1 views

Factor VII (FVII) is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. It is synthesized primarily in the liver and circulates in plasma at a concentration of approximately 0.5 microg/ml (10 nmol/L). The FVII gene (F7) is located on chromosome 13

Evaluation of factor VII antigen in fact

Evaluation of factor VII antigen in factor VII congenital deficiencies with a new ELISA assay

✍ M. C. Tirindelli; Prof. G. Mariani; M. G. Mazzucconi; G. Iacopino; M. Carbonaro; 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 444 KB 👁 1 views

Lack of bleeding in patients with severe

Lack of bleeding in patients with severe factor VII deficiency

✍ J. Mark Barnett; Kurt C. Demel; Anthony E. Mega; James N. Butera; Joseph D. Swee 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 120 KB 👁 1 views

Factor VII deficiency, although rare, is now recognized as the most common autosomal recessive inherited factor deficiency. It is usually considered to be associated with bleeding only in the severely affected subject and heterozygotes (>10%) are not considered at risk. The general recommendation fo

Factor XI gene mutations in factor XI de

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

✍ Giancarlo Castaman; Sofia H. Giacomelli; David Habart; Rosanna Asselta; Stefano 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 345 KB 👁 1 views

Compound heterozygosity for two novel mu

Compound heterozygosity for two novel mutations in a severe factor XI deficiency

✍ Akiko Tsukahara; Takayuki Yamada; Akira Takagi; Takashi Murate; Tadashi Matsushi 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

Heteroduplex analysis in hemophilia B: D

Heteroduplex analysis in hemophilia B: Detection of two novel factor IX gene mutations

✍ Driscoll, M. Catherine; Chu, Agnes; Hilgartner, Margaret W. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 256 KB 👁 1 views

Heteroduplex analysis of polymerase chain reaction (PCR)-amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis ldentifled two novel FIX mutations and SIX recurre