Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types
✍ Scribed by Bianchi, Albert B.; Hara, Tetsuo; Ramesh, Vijaya; Gao, Jizong; Klein-Szanto, Andrés J. P.; Morin, Francine; Menon, Anil G.; Trofatter, James A.; Gusella, James F.; Seizinger, Bernd R.
- Book ID
- 109915148
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 794 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1061-4036
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The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individ
An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1 x 10 -4 per gamete per generation. The molecular basis for frequent NFI mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occurred