RecurrentNF1 gene mutation in a patient
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Buske, Annegret; Gewies, Andreas; Lehmann, R�diger; R�ther, Klaus; Algermissen,
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Article
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1999
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John Wiley and Sons
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English
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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