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Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations

✍ Scribed by Mirko Pinotti; Pierpaolo Caruso; Alessandro Canella; Matteo Campioni; Giuseppe Tagariello; Giancarlo Castaman; Sofia Giacomelli; Donata Belvini; Francesco Bernardi

Book ID: 112099781
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 245 KB
Volume: 33
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.22120

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CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

✍ Shi-Han Chen; Min Zhang; Everett W. Lovrien; C. Ronald Scott; Arthur R. Thompson 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 736 KB

Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in the transcribed sequence of the factor IX genes of patients from 50 distinct families with