Abstract
We have screened a total of 105 unrelated patients with neurofibromatosis type l (NF1) for mutations in exon 28 of the NF1 gene using heteroduplex analysis and single strand conformation polymorphism analysis. One novel mutation has been identified and characterised. This mutation involves a 13-bp deletion (AAACTGGCTGAGC or AACTGGCTGAGCA) from base position 5077 (or 5078) to 5089 (or 5090) of the cDNA coding sequence. This alteration leads to a reading frame shift with a premature amber termination signal (TAG) at codon 1694. In addition, there is a change from lysine to threonine at codon 1693. The truncated gene product is estimated to be 1125 amino acid residues shorter than the predicted normal protein (2818 amino acids).
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Shen, M.H., Upadhyaya, M. A de novo nonsense mutation in exon 28 of the neurofibromatosis type l (NF1) gene. Hum Genet 92, 410–412 (1993). https://doi.org/10.1007/BF01247346
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DOI: https://doi.org/10.1007/BF01247346