Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.
Niceta
Marcello
M
Medical Genetics, A.O.V. Cervello, via Trabucco, 180, 90146, Palermo, Italy. marcelloniceta@virgilio.it
Fabiano
Carmelo
C
Sammarco
Pietro
P
D003062:Codon / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense
D003062:Codon; C078147:F8 protein, human; D005169:Factor VIII