Mutation detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs.
Vielhaber
E
E
Sommer
S S
SS
Freedenberg
D
D
D000649:Amniocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation