Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.
Fabiano
Carmelo
C
Laboratory of Medical Genetics, A. O. V. CERVELLO, via Trabucco, 180, 90146, Palermo, Italy.
Niceta
Marcello
M
Sammarco
Pietro
P
D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics
D022821:RNA Splice Sites; C078147:F8 protein, human; D005169:Factor VIII