Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation
β Scribed by Nicita, Francesco; Torrente, Isabella; Spalice, Alberto; Bottillo, Irene; Papetti, Laura; Pinna, Valentina; Ursitti, Fabiana; Ruggieri, Martino
- Book ID
- 122666315
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 607 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0967-5868
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We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This Cto-T
The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We h