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Thirty-Nine Novel Neurofibromatosis 1 ( NF1) Gene Mutations Identified in Slovak Patients

โœ Scribed by Nemethova, Martina; Bolcekova, Anna; Ilencikova, Denisa; Durovcikova, Darina; Hlinkova, Katarina; Hlavata, Anna; Kovacs, Laszlo; Kadasi, Ludevit; Zatkova, Andrea


Book ID
120491128
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
421 KB
Volume
77
Category
Article
ISSN
0003-4800

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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