Compound heterozygous mutations in the γ-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors

British Journal of Haematology

Volumn 126, Issue 4, 2004, Pages 546-549

  Rost, Simone ^a   Fregin, Andreas ^a   Koch, Dieter ^b   Compes, Markus ^c   Müller, Clemens R ^a   Oldenburg, Johannes ^a,d,e  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b Children's Hospital   (Germany)

^c KRANKENHAUS MERHEIM   (Germany)

^d UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^e UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

glutamyl carboxylase gene; Mutation analysis; Vitamin K; VKCFD

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 9; FATTY ACID BINDING PROTEIN; PROLINE; PROTEIN C; PROTEIN S; VITAMIN D; VITAMIN K DEPENDENT CARBOXYLASE; VITAMIN K GROUP;

ARTICLE; BLEEDING DISORDER; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; EMBRYOPATHY; EXON; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL; VITAMIN K DEFICIENCY;

AMINO ACID SEQUENCE; ANIMALS; CARBON-CARBON LIGASES; COAGULATION PROTEIN DISORDERS; HETEROZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ALIGNMENT; VITAMIN K;

EID: 4143112300     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05071.x     Document Type: Article

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