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A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein

✍ Scribed by D'angelo, Igor; Welti, Stefan; Bonneau, Fabien; Scheffzek, Klaus

Book ID
110032951
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
312 KB
Volume
7
Category
Article
ISSN
1469-221X

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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