Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 2, 2010, Pages 120-123

  Abdallah, Hejer Elmahmoudi ^a   Gouider, Emna ^b   Stambouli, Nejla ^a   Amor, Mohamed Ben ^a   Jlizi, Asma ^a   Belhedi, Nejla ^a   Sassi, Rim ^a   Khodjetelkhil, Houssein ^a   Meddeb, Balkis ^b   Hafsia, Raouf ^b   Hamza, Adel ^a   Elgaaied, Amel Benammar ^a  

^a FACULTÉ DES SCIENCES DE TUNIS   (Tunisia)

^b Hopital Aziza Othmana   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; GENOMIC DNA; HISTIDINE; MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD SAMPLING; CASE REPORT; CHILD; CIRCUMCISION; CONTROLLED STUDY; EXON; GENE MUTATION; GENETIC ASSOCIATION; HEMOPHILIA A; HUMAN; INGUINAL HERNIA; LETTER; MALE; MOLECULAR DYNAMICS; MOLECULAR MODEL; MUTATIONAL ANALYSIS; PARTIAL THROMBOPLASTIN TIME; POSTOPERATIVE HEMORRHAGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; PROTHROMBIN TIME; STRUCTURE ANALYSIS;

BLOOD COAGULATION DISORDERS, INHERITED; CHILD, PRESCHOOL; FACTOR V; FACTOR V DEFICIENCY; FACTOR VIII; HUMANS; MALE; MOLECULAR DYNAMICS SIMULATION; MUTATION; NUCLEAR MAGNETIC RESONANCE, BIOMOLECULAR; PROTEIN CONFORMATION; VESICULAR TRANSPORT PROTEINS;

EID: 74849091269     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.11.004     Document Type: Letter

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