NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1)
β Scribed by N. Hatta; T. Horiuchi; I. Watanabe; Y. Kobayashi; Y. Shirakata; H. Ohtsuka; T. Minami; K. Ueda; T. Kokoroishi; S. Fujita
- Book ID
- 115576950
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 493 KB
- Volume
- 212
- Category
- Article
- ISSN
- 0006-291X
No coin nor oath required. For personal study only.
π 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
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subt
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,