[DNA diagnosis of hemophilia A in a family without an affected proband].
A pedigree is described where the proband affected by hemophilia A, as well as his healthy brother, have died (so that their DNA was not available for analysis), and yet, the determination of five linked RFLPs in the remaining pedigree members made it possible to ascertain the carrier status in the proband's grand-daughter. (Fig. 1, Tab. 1, Ref. 16).
Gécz
J
J
Oddelenie genetiky Ustavu molekulárnej fyziológie a genetiky SAV v Bratislave.
D004247:DNA / Q000032:analysis; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers; D005169:Factor VIII; D004247:DNA
DNA-diagnostika hemofílie A v rodine bez postihnutého.