Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr)

Thrombosis and Haemostasis

Volumn 90, Issue 6, 2003, Pages 1040-1045

  Lombardi, Anna Maria ^a   Sartori, Maria Teresa ^a   Cabrio, Laura ^a   Fadin, Mariangela ^a   Zanon, Ezio ^a   Girolami, Antonio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Contact phase; Fletcher factor; Gene mutations; Prekallikrein deficiency

Indexed keywords

ANTIGEN; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 7; CYSTEINE; HIGH MOLECULAR WEIGHT KININOGEN; PREKALLIKREIN; TRYPTOPHAN; TYROSINE;

ADOLESCENT; ARTICLE; BLEEDING; BLOOD CLOTTING TEST; CASE REPORT; DISEASE SEVERITY; EXON; FATHER; FEMALE; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MOLECULAR BIOLOGY; MOTHER; PARENT; PHENOTYPE; PLASMA; POINT MUTATION; PREKALLIKREIN DEFICIENCY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTHROMBIN TIME; STOP CODON; TONSILLECTOMY;

EID: 0347478087     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/th03-05-0275     Document Type: Article

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