How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency.
The study of the molecular pathogenesis of several single-gene disorders, such as coagulation-factor deficiencies, has revealed the variability of phenotypic expression, even of the same mutations in single genes. These studies underline the complexity of research dealing with the definition of the molecular bases of disorders. Sequence variations provide only the starting point to define pathological genotype-phenotype relationships.
Bernardi
F
F
Department of Biochemistry and Molecular Biology, University of Ferrara, 44100 Ferrara, Italy. ber@dns.unife.it
Marchetti
G
G
Dolce
A
A
Mariani
G
G
D001778:Blood Coagulation Disorders / Q000150:complications / Q000151:congenital / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000235:genetics; D005168:Factor VII Deficiency / Q000150:complications / Q000235:genetics*; D005838:Genotype; D006470:Hemorrhage / Q000209:etiology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic
D001779:Blood Coagulation Factors