Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: Importance of prophylactic substitution

Blood Coagulation and Fibrinolysis

Volumn 20, Issue 7, 2009, Pages 605-606

  Morange, Pierre ^a,b   Trigui, Nawel ^c,d   Frère, Corinne ^a,b   Chambost, Hervé ^a,b   Pouymayou, Catherine ^b   Uters, Marion ^e   Boucly, Catherine ^c   Juhan Vague, Irène ^a,b   De Mazancourt, Philippe ^c,d,f  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c Hôpital de Poissy St Germain   (France)

^d LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^e HÔPITAL NORD   (France)

^f CENTRE HOSPITALIER INTERCOMMUNAL   (France)

Author keywords

Factor XIII; Factor XIII deficiency; Intracranial haemorrhage; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 13A; DNA; LEUCINE; PROTEIN SUBUNIT; BLOOD CLOTTING FACTOR 13;

ANAMNESIS; ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; CONGENITAL DISORDER; CONGENITAL FXLLL AUBUNIT DEFICIENCY; CONVALESCENCE; DISEASE SEVERITY; DNA EXTRACTION; DNA PURIFICATION; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FRAMESHIFT MUTATION; GENE INSERTION; GENE SEQUENCE; GENETIC CODE; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROPHYLAXIS; PROTEIN DEFICIENCY; TREATMENT DURATION; TREATMENT OUTCOME; CHILD; FACTOR XIII DEFICIENCY; GENETICS; HEMORRHAGE; MUTATION; NEWBORN; PREMEDICATION; PROCEDURES; SIBLING;

CHILD; DNA MUTATIONAL ANALYSIS; FACTOR XIII; FACTOR XIII DEFICIENCY; HEMORRHAGE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PREMEDICATION; SIBLINGS;

EID: 70349823624     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32832ee7eb     Document Type: Article

References (8)

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