Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 12, 2006, Pages 2623-2628

  Wong, A Y K ^a   Hewitt, J ^a   Clarke, B J ^b   Hudson, D M ^a   Krisinger, M J ^a   Dower, N A ^c   MacGillivray, Ross T A ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Bleeding disorder; Membrane binding; Mutation analysis; Post translational modification; Prothrombin factor II deficiency

Indexed keywords

BLOOD CLOTTING FACTOR 9; COMPLEMENTARY DNA; DNA FRAGMENT; GENOMIC DNA; PROTEIN PRECURSOR; PROTHROMBIN; PROTHROMBIN PROPEPTIDE; UNCLASSIFIED DRUG;

ARTICLE; BLOOD CLOTTING TEST; CARBOXYLATION; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DNA CLEAVAGE; DNA SEQUENCE; FAMILY HISTORY; GENE AMPLIFICATION; GENE DELETION; HEREDITY; HETEROZYGOSITY; HUMAN; INFANT; LIVER CELL; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTHROMBIN DEFICIENCY; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

DNA, COMPLEMENTARY; EXONS; GENE DELETION; HUMANS; HYPOPROTHROMBINEMIAS; INFANT; MALE; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTHROMBIN; SEQUENCE ANALYSIS, DNA;

EID: 33750996176     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2006.02235.x     Document Type: Article

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