The higher prevalence of missense mutations in hemophilia B compared to hemophilia A could be important in determining a milder clinical phenotype in patients with severe hemophilia B.
Department of Experimental and Clinical Medicine, Section of Internal Medicine, University of Florence, Rheumatology Unit, Careggi University Hospital, Florence, Italy daniela.melchiorre@unifi.it.
Daniela
D
Melchiorre
Center for Bleeding Disorders, Careggi University Hospital, Florence, Italy.
Silvia
S
Linari
Center for Bleeding Disorders, Careggi University Hospital, Florence, Italy.
Giancarlo
G
Castaman
D005169:Factor VIII / Q000235:genetics; D006467:Hemophilia A / Q000453:epidemiology*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D015995:Prevalence
D005169:Factor VIII
hemophila; hemophilia B; missense mutations
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