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Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1

โœ Scribed by Takahiko Horiuchi; Nobuaki Hatta; Ichiro Watanabe; Yuzuru Kobayashi; Margaret R. Wallace; Yuji Shirakata; Hisashi Ohtsuka; Shigeru Fujita

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
266 KB
Volume
11
Category
Article
ISSN
1059-7794

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๐Ÿ“œ SIMILAR VOLUMES

Neurofibromatosis eurofibromatosis type
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients
โœ Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 154 KB

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,

Ten novel mutations in the human neurofi
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients
โœ Paola Origone; Alessandro De Luca; Carlo Bellini; Anna Buccino; Rita Mingarelli; ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 234 KB

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