Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family

Haemophilia

Volumn 11, Issue 5, 2005, Pages 539-547

  Onland, W ^a   Boing A N ^b   Meijer, A B ^c,d   Schaap, M C L ^b   Nieuwland, R ^b   Haasnoot, K ^e   Sturk, A ^b   Peters, Marjolein ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c SANQUIN RESEARCH   (Netherlands)

^d UTRECHT UNIVERSITY   (Netherlands)

^e Location Alkmaar   (Netherlands)

Author keywords

Blood coagulation disorder; Factor XIII deficiency; Haemorrhage; Mutation; Newborn

Indexed keywords

ALANINE; BLOOD CLOTTING FACTOR 13 CONCENTRATE; DNA; FRESH FROZEN PLASMA; GLUTAMIC ACID; GLYCINE; PHENYLALANINE; THREONINE; VALINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING DISORDER; BLEEDING TENDENCY; BLOOD CLOTTING FACTOR 13 DEFICIENCY; BLOOD CLOTTING TEST; BRAIN HEMORRHAGE; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA DETERMINATION; ECHOENCEPHALOGRAPHY; ERYTHROCYTE TRANSFUSION; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENOTYPE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NETHERLANDS; NUCLEIC ACID BASE SUBSTITUTION; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; UMBILICAL CORD BLOOD;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; HEMORRHAGE; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; UMBILICAL CORD;

EID: 24644524055     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2005.01137.x     Document Type: Article

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