[DNA diagnosis of hemophilia A in a family without an affected proband].
Jozef Gécz
Abstract
Jozef Gécz
Abstract
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).
A significance statement is not available in the OpenAlex record.
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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).
Key concepts: Proband, Daughter, Brother, Medicine, Genetics, Biology, Mutation, Gene