Factor XIII deficiency: Complete phenotypic characterization of two cases with novel causative mutations

Haemophilia

Volumn 20, Issue 1, 2014, Pages 114-120

  Katona, É ^a   Muszbek, L ^a,b   Devreese, K ^c   Kovacs K B ^a   Bereczky, Z ^a   Jonkers, M ^d   Shemirani, A H ^b   Mondelaers, V ^c   Ermens, A A M ^d  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b UNIVERSITY OF DEBRECEN   (Hungary)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d AMPHIA HOSPITAL   (Netherlands)

Author keywords

Factor XIII; Factor XIII determination; Factor XIII A deficiency; Rare bleeding disorder; Single nucleotide deletion; Splice site mutation

Indexed keywords

ANTIGEN; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 A ANTIGEN; BLOOD CLOTTING FACTOR 8 A2B2 ANTIGEN; BLOOD CLOTTING FACTOR 8 B ANTIGEN; BLOOD CLOTTING FACTOR 8 CONCENTRATE; FIBROGAMMIN P; FRESH FROZEN PLASMA; MESSENGER RNA; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; F13A1 GENE; FEMALE; GENE DELETION; GENE MUTATION; HEMATOLOGY TEST KIT; HEMOPHILIA A; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; MALE; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTHROMBIN TIME; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SPLICE SITE MUTATION; THROMBOCYTE COUNT; TREATMENT OUTCOME;

FACTOR XIII; FACTOR XIII DETERMINATION; FACTOR XIII-A DEFICIENCY; RARE BLEEDING DISORDER; SINGLE NUCLEOTIDE DELETION; SPLICE-SITE MUTATION;

ADOLESCENT; BLOOD PLATELETS; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR XIII; FACTOR XIII DEFICIENCY; FACTOR XIIIA; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84890857238     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12267     Document Type: Article

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