TY - JOUR
T1 - Heteroduplex analysis in hemophilia B
T2 - Detection of two novel factor IX gene mutations
AU - Driscoll, M. Catherine
AU - Chu, Agnes
AU - Hilgartner, Margaret W.
PY - 1996/4
Y1 - 1996/4
N2 - Heteroduplex analysis of polymerase chain reaction (PCR)-amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis identified two novel FIX mutations and six recurrent mutations. Three of the eight pedigrees represent sporadic hemophilia B, and direct mutation analysis facilitated hemophilia carrier diagnosis in each case.
AB - Heteroduplex analysis of polymerase chain reaction (PCR)-amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis identified two novel FIX mutations and six recurrent mutations. Three of the eight pedigrees represent sporadic hemophilia B, and direct mutation analysis facilitated hemophilia carrier diagnosis in each case.
KW - FIX gene mutation
KW - Hemophilia B
KW - Heteroduplex analysis
UR - http://www.scopus.com/inward/record.url?scp=0029870751&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029870751&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8652(199604)51:4<324::AID-AJH13>3.0.CO;2-E
DO - 10.1002/(SICI)1096-8652(199604)51:4<324::AID-AJH13>3.0.CO;2-E
M3 - Article
C2 - 8602635
AN - SCOPUS:0029870751
SN - 0361-8609
VL - 51
SP - 324
EP - 327
JO - American Journal of Hematology
JF - American Journal of Hematology
IS - 4
ER -