Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.
Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mutations in 7 exons and 5' and 3' non-coding regions were positive.
Chen
S H
SH
Department of Pediatrics, University of Washington, Seattle.
Schoof
J M
JM
Weinmann
A F
AF
Thompson
A R
AR
D004247:DNA / Q000032:analysis / Q000235:genetics; D005164:Factor IX / Q000235:genetics*; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics
D009692:Nucleic Acid Heteroduplexes; D005164:Factor IX; D004247:DNA