Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation.
Bicocchi
Maria Patrizia
MP
Pasino
Mirella
M
Lanza
Tiziana
T
Bottini
Federico
F
Molinari
Angelo Claudio
AC
Rosano
Camillo
C
Acquila
Maura
M
D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis
D012333:RNA, Messenger; D005169:Factor VIII