Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation

British Journal of Haematology

Volumn 127, Issue 2, 2004, Pages 220-223

  Jones, D Wynne ^a   Russell, Geoffrey ^b   Allford, Sarah L ^b   Burdon, Kathryn ^c   Hawkins, Gregory A ^c   Bowden, Donald W ^c   Minaee, Sophie ^d   Mumford, Andrew D ^d  

^a UNIVERSITY OF KENT   (United Kingdom)

^b FRENCHAY HOSPITAL   (United Kingdom)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

^d BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

Activated partial thromboplastin time; Contact system; Fletcher factor; Gene mutation; Prekallikrein deficiency

Indexed keywords

ARGININE; PREKALLIKREIN;

AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; BLOOD CLOTTING DISORDER; BLOOD CLOTTING TIME; CASE REPORT; GENE EXPRESSION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; PREKALLIKREIN DEFICIENCY; PRIORITY JOURNAL;

AGED; CODON, NONSENSE; CODON, TERMINATOR; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PHENOTYPE; PREKALLIKREIN;

EID: 5644271562     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05180.x     Document Type: Article

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