Sex differences in mutational rate and mutational mechanism in theNF1gene in neurofibromatosis type 1 patients
✍ Scribed by C. Lázaro; Antonia Gaona; Peter Ainsworth; Romano Tenconi; Dominique Vidaud; Helena Kruyer; Elisabet Ars; Víctor Volpini; Xavier Estivill
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 41 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
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