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Titolo:
Factor VII deficiency and the FVII mutation database
Autore:
McVey, JH; Boswell, E; Mumford, AD; Kemball-Cook, G; Tuddenham, EGD;
Indirizzi:
Univ London Imperial Coll Sci Technol & Med, Sch Med, MRC, Clin Sci Ctr,Haemostasis Res Grp, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med London England W12 0NN gland
Titolo Testata:
HUMAN MUTATION
fascicolo: 1, volume: 17, anno: 2001,
pagine: 3 - 17
SICI:
1059-7794(2001)17:1<3:FVDATF>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
COAGULATION-FACTOR-VII; TISSUE FACTOR-BINDING; CORONARY-ARTERY DISEASE; ISCHEMIC-HEART-DISEASE; HOMOZYGOUS MISSENSE MUTATION; AMINO-ACID SUBSTITUTION; CATALYTIC DOMAIN; BLOOD-COAGULATION; CRYSTAL-STRUCTURE; MOLECULAR ANALYSIS;
Keywords:
factor VII; F7; factor VII deficiency; mutation database; blood coagulation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
81
Recensione:
Indirizzi per estratti:
Indirizzo: McVey, JH Univ London Imperial Coll Sci Technol & Med, Sch Med, MRC, Clin Sci Ctr,Haemostasis Res Grp, Du Cane Rd, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med Du Cane Rd London England W12 0NN
Citazione:
J.H. McVey et al., "Factor VII deficiency and the FVII mutation database", HUM MUTAT, 17(1), 2001, pp. 3-17

Abstract

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 mug/ml (10 nmol/L). The FVII gene (F7) is located on chromo some 13 (13q34), consists of 9 exons, and spans approximately 12kb. It encodes a mature protein of 406 amino acids, which has an N-terminal domain (Gla) post translationally modified by gamma -carboxylation of glutamic acid residues, two domains with homology to epidermal growth factor (EGF1 and 2), and a C-terminal serine protease domain. The single chain zymogen is activated by proteolytic cleavage at Arg152-Ile153. There are 238 individuals described in the world literature with mutations in their F7 genes (FVII mutation database; europium.csc.mrc.ac.uk). Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 gene(s), however, are either asymptomatic or the clinical phenotype is unknown. In general, a severe bleeding phenotype is only observed in individuals homozygous for a mutation in their F7 genes with FVII activities (FVII:C) below 2% of normal, however, a considerable proportion of individuals with a mild-moderate bleeding phenotype have similar FVII:C by in vitro assay. The failure of in vitro tests to differentiate between these groups may be due to lack of sensitivity in the assays to the very low amounts of FVII:C, which are sufficient to initiate coagulation in vivo. A number of polymorphisms have been identified in the F7 gene and some have been shown toinfluence plasma FVII antigen levels. Hum Mutat 17:3-17, 2001. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 12:24:55