First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.
Tizzano
Eduardo F
EF
Department of Genetics, Hospital of Sant Pau Av. Padre Claret 167 08025, Barcelona, Spain. etizzano@hsp.santpau.es
Venceslá
Adoracioń
A
Baena
Manel
M
Cornet
Mónica
M
Calvo
María T
MT
Lucía
José F
JF
Pérez Garrido
Rosario
R
Núñez
Ramiro
R
Baiget
Montserrat
M
D004252:DNA Mutational Analysis / Q000379:methods; D005169:Factor VIII / Q000235:genetics*; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
D005169:Factor VIII