How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: Examples from FVII deficiency

Haemophilia, Supplement

Volumn 10, Issue 4, 2004, Pages 177-179

  Bernardi, F ^a   Marchetti, G ^b   Dolce, A ^b   Mariani, G ^c  

^a UNIVERSITY OF FERRARA   (Italy)

^b ITALIAN NATIONAL INSTITUTE OF STATISTICS   (Italy)

^c UNIVERSITY OF L'AQUILA   (Italy)

Author keywords

Coagulation disorder; Haemophilia; Haemostatic balance; Heterogeneous mutational spectrum; Phenotype genotype relationship; Phenotypic diversity

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; THROMBIN; VITAMIN K DEPENDENT CARBOXYLASE; VON WILLEBRAND FACTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 11 DEFICIENCY; BLOOD CLOTTING FACTOR 12 DEFICIENCY; BLOOD CLOTTING FACTOR 13 DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD CLOTTING FACTOR DEFICIENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SIMILARITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMOPHILIA A; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

EID: 11044224171     PISSN: 13550691     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2004.00989.x     Document Type: Article

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