Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties

Human Genetics

Volumn 111, Issue 1, 2002, Pages 59-65

  Soria, José Manuel ^a   Blangero, John ^b   Souto, Joan Carles ^a   Martínez Sánchez, Elisabeth ^a   Martínez Marchán, Elisabeth ^a   Coll, Immaculada ^a   Tirado, Isabel ^a   Cercós, Albert ^a   Almasy, Laura ^b   Fontcuberta, Jordi ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 5; DNA;

ALLELE; ANTICOAGULATION; ARTICLE; BLOOD CLOTTING; COMPARATIVE STUDY; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEMOSTASIS; HETEROZYGOTE; HUMAN; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PLASMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SPAIN; THROMBOPHILIA;

BASE SEQUENCE; EXONS; FACTOR V; FEMALE; GENE DELETION; GENETIC MARKERS; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RISK FACTORS; SPAIN; THROMBOSIS;

EID: 0036664452     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0746-y     Document Type: Article

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