Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 324-327 |
| Number of pages | 4 |
| Journal | American Journal of Hematology |
| Volume | 51 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1996 |
| Externally published | Yes |
Keywords
- FIX gene mutation
- Hemophilia B
- Heteroduplex analysis
ASJC Scopus subject areas
- Hematology
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