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Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke

✍ Scribed by Sung-Chun Tang; Ming-Jen Lee; Jiann-Shing Jeng; Ping-Keung Yip


Book ID
119301877
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
159 KB
Volume
243
Category
Article
ISSN
0022-510X

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RecurrentNF1 gene mutation in a patient
✍ Buske, Annegret; Gewies, Andreas; Lehmann, RοΏ½diger; RοΏ½ther, Klaus; Algermissen, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin