A severe neonatal presentation of factor II deficiency

European Journal of Haematology

Volumn 87, Issue 5, 2011, Pages 464-466

  Pasmant, Eric ^a   Dumont, Bénédicte ^a   Lacapere, Jean Jacques ^b   Dautzenberg, Marie Dominique ^c   Bezeaud, Annie ^a,d  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Hemorrhage; Hypoprothrombinemia; Prothrombin

Indexed keywords

CLONAZEPAM; FRESH FROZEN PLASMA; GENOMIC DNA; PHENOBARBITAL; PROTHROMBIN; PROTHROMBIN COMPLEX;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; BRAIN HEMORRHAGE; BRAIN SURGERY; CASE REPORT; CLONIC SEIZURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DNA SEQUENCE; ECHOGRAPHY; EXON; FOLLOW UP; GENETIC ASSOCIATION; HEMATOMA; HEMIPARESIS; HETEROZYGOTE; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HUMAN; HUMAN CELL; HYDROCEPHALUS; HYPOPROTHROMBINEMIA; INFANT; INTRON; KRINGLE DOMAIN; LETHARGY; LEUKOCYTE; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTHROMBIN DEFICIENCY; PROTHROMBIN TIME; PSYCHOMOTOR DEVELOPMENT; TREATMENT OUTCOME; UNCONSCIOUSNESS; VOMITING;

HUMANS; HYPOPROTHROMBINEMIAS; INFANT; MALE; POINT MUTATION; PROTHROMBIN;

EID: 80054036352     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2011.01670.x     Document Type: Article

References (6)

1. Wong AY, Hewitt J, Clarke BJ, Hudson DM, Krisinger MJ, Dower NA, MacGillivray RT. Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. J Thromb Haemost 2006;4:2623-8.
2. Akhavan S, Mannucci PM, Lak M, Mancuso G, Mazzucconi MG, Rocino A, Jenkins PV, Perkins SJ. Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. Thromb Haemost 2000;84:989-97.
3. Huber P, Schmitz R, Griffin J, Jacobs M, Walsh C, Furie B, Furie BC. Identification of amino acids in the c-carboxylation recognition site on the propeptide of prothrombin. J Biol Chem 1990;265:12467-73.
4. Park CH, Tulinsky A. Three-dimensional structure of the kringle sequence: structure of prothrombin fragment 1. Biochemistry 1986;25:3977-82.
5. Wu SM, Soute BA, Vermeer C, Stafford DW. In vitro gamma-carboxylation of a 59-residue recombinant peptide including the propeptide and the gamma-carboxyglutamic acid domain of coagulation factor IX. Effect of mutations near the propeptide cleavage site. J Biol Chem 1990;265:13124-9.
6. Wallin R, Stanton C, Hutson SM. Intracellular maturation of the gamma-carboxyglutamic acid (Gla) region in prothrombin coincides with release of the propeptide. Biochem J 1993;291:723-7.