Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: A founder effect?

European Journal of Haematology

Volumn 78, Issue 5, 2007, Pages 405-409

  Akhavan, Sepideh ^a,b   Chafa, Ouerdia ^c   Nsoure Obame, Fatou ^a,b   Torchet, Marie Françoise ^d   Reghis, Abderrezak ^c   Fischer, Anne Marie ^a,b,e   Tapon Bretaudière, Jacqueline ^a,b,e  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c CHU Mustapha   (Algeria)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Bleeding disorder; Factor X; Haplotype analysis; Inherited blood coagulation deficiency; Rare disease

Indexed keywords

BLOOD CLOTTING FACTOR 10;

ADOLESCENT; ADULT; ALGERIA; ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CELL LYSATE; CHILD; CLINICAL ARTICLE; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; EXON; FAMILY; FEMALE; HAPLOTYPE; HETEROZYGOTE; HUMAN; IN VIVO STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; TRANSIENT EXPRESSION; WILD TYPE;

ALGERIA; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; COS CELLS; DNA PRIMERS; FACTOR X; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MUTATION; PHENYLALANINE; SERINE;

EID: 34147155352     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2007.00836.x     Document Type: Article

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