Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis

British Journal of Haematology

Volumn 117, Issue 1, 2002, Pages 168-171

  Borensztajn, Keren ^a   Chafa, Ouerdia ^b   Alhenc Gelas, Martine ^a   Salha, Siham ^a   Reghis, Abderrezak ^b   Fischer, Anne Marie ^a   Tapon Bretaudière, Jacqueline ^a,c  

^a FACULTÉ DES SCIENCES PHARMACEUTIQUES ET BIOLOGIQUES   (France)

^b CHU Mustapha   (Algeria)

^c INSERM   (France)

Author keywords

Factor VII deficiency; Gene mutations

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 7; GLUTAMINE; MESSENGER RNA;

ADOLESCENT; ALGERIA; ARTICLE; BLEEDING TENDENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD CLOTTING FACTOR 7 GENE; BRAIN HEMORRHAGE; CASE REPORT; DISEASE SEVERITY; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; MALE; MISSENSE MUTATION; MITOCHONDRION; PRIORITY JOURNAL; RNA PROCESSING;

EID: 0036229468     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03397.x     Document Type: Article

References (12)

1. Basic Local Alignment search tool
2. Identification of surface residues mediating tissue factor binding and catalytic function of the serine protease factor VIIa
3. Characterization of a cDNA coding for human factor VII gene
4. Crystal structure of active site-inhibited human coagulation factor VIIa (des-Gla)
5. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
6. Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency
7. Factor VII deficiency and the FVII mutation database
8. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency
9. Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency
10. Structure of human factor VIIa and its implications for the triggering of blood coagulation
11. Molecular mechanisms of FVII deficiency: Expression of mutations clustered in the IVS7 donor splice site of factor VII gene
12. Escape and migration of nucleic acids between chloroplasts, mitochondria, and the nucleus