Article
A large deletion due to a new mutation (intron 13/exon 23) in a sporadic case of severe hemophilia A.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Jan 2004
Lombardi Anna Maria, Cabrio Laura, Zanon Ezio, Sartori Maria Teresa, Navaglia Filippo, Plebani Mario, Girolami Antonio
Abstract excerpt
A case of sporadic hemophilia A in a young child was investigated from a molecular biology point of view. The propositus is a 4-year-old severe hemophiliac who was first seen when he was 2 years old. At that time, easy bruising and hematomas were noted because of accidental falls while toddling....
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