Novel mutation in the γ-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors

Blood

Volumn 96, Issue 10, 2000, Pages 3650-3652

  Spronk, H M H ^a   Farah, R A ^a   Buchanan, G R ^a   Vermeer, C ^a   Soute, B A M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR; GAMMA GLUTAMYL HYDROLASE; VITAMIN K GROUP;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING DISORDER; CASE REPORT; CONSANGUINEOUS MARRIAGE; EXON; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INHERITANCE; LEBANON; MALE; MISSENSE MUTATION; NEWBORN; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0034669988     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.10.3650     Document Type: Article

References (14)

1. Microsomal vitamin K-dependent carboxylase
2. Role of gamma-carboxyglutamic acid: An unusual protein transition required for the calcium-dependent binding of prothrombin to phospholipid
3. Cloning and expression of the cDNA for human gamma-glutamyl carboxylase
4. Chromosomal localization of the gamma-glutamyl carboxylase gene at 2p12
5. Mutations in the catalytic domain of factor IX that are related to the subclass hemophilia Bm
6. Factor IX San Dimas: Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties
7. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants
8. Congenital deficiency of blood clotting factors II, VII, IX, and X
9. Hereditary deficiency of vitamin K-dependent coagulation factors with skeletal abnormalities
10. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: Clues to the mechanism of teratogenicity of coumarin derivatives
11. Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII IX and X
12. A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors
13. Propeptide and glutamate-containing substrates bound to the vitamin K-dependent carboxylase convert its vitamin K epoxidase function from an inactive to an active state
14. Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats