𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene

✍ Scribed by M. Upadhyaya; Michael J. Osborn; Julie Maynard; Mee Rhan Kim; Fuyuhiko Tamanoi; David N. Cooper


Publisher
Springer
Year
1996
Tongue
English
Weight
36 KB
Volume
99
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


RecurrentNF1 gene mutation in a patient
✍ Buske, Annegret; Gewies, Andreas; Lehmann, RοΏ½diger; RοΏ½ther, Klaus; Algermissen, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin

Characterization of the somatic mutation
✍ Meena Upadhyaya; Song Han; Claudia Consoli; Elisa Majounie; Martin Horan; Nick S πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 307 KB πŸ‘ 1 views

## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors

Neurofibromatosis eurofibromatosis type
✍ Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 154 KB πŸ‘ 1 views

In the present study the entire NF1 coding region was analyzed for mutations in 132 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 8 novel mutations. Clinical diagnosis of NF1 was established according to the NIH consensus criteria. We detected 59 truncated fragments,