Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene
โ Scribed by Peter J. Ainsworth; David I. Rodenhiser; M. Teresa Costa
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 884 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0340-6717
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๐ SIMILAR VOLUMES
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,
Neurofibromatosis type 1 ("1) is one of the most common inherited disorders, with an incidence of 1 in 3,000. We screened a total of 320 unrelated NF1 patients for mutations in exon 37 of the NF1 gene. Six independent mutations were identified, of which three are novel, and these include a recurrent