A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency

Journal of Thrombosis and Haemostasis

Volumn 2, Issue 6, 2004, Pages 918-924

  Bolton Maggs, Paula H B ^a   Peretz, H ^b   Butler, R ^c   Mountford, R ^c   Keeney, S ^a   Zacharski, L ^d,e   Zivelin, A ^b   Seligsohn, U ^b  

^a MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^b TEL AVIV UNIVERSITY   (Israel)

^c LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e DARTMOUTH MEDICAL SCHOOL   (United States)

Author keywords

Factor XI; Founder effect; Gene mutation

Indexed keywords

BLOOD CLOTTING FACTOR 11;

ADULT; AGED; ANAMNESIS; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CONTROLLED STUDY; DISEASE SEVERITY; ETHNIC DIFFERENCE; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HETERODUPLEX ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; UNITED KINGDOM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY, MOLECULAR; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FACTOR XI DEFICIENCY; FEMALE; FOUNDER EFFECT; GENOTYPE; GREAT BRITAIN; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PEDIGREE;

EID: 4444317749     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00723.x     Document Type: Article

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