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Five novel factor IX mutations in unrelated hemophilia B patients

✍ Scribed by Dezso David; Isabel Moreira; Sara Morais; Graça De Deus


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
213 KB
Volume
11
Category
Article
ISSN
1059-7794

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Heteroduplex analysis in hemophilia B: D
✍ Driscoll, M. Catherine; Chu, Agnes; Hilgartner, Margaret W. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 256 KB 👁 2 views

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 ldentifled two novel FIX mutations and SIX recurre