Abstract
We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.
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Received: November 8, 1999 / Accepted: November 15, 1999
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Park, K., Choi, H., Park, K. et al. A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. J Hum Genet 45, 84–85 (2000). https://doi.org/10.1007/s100380050016
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DOI: https://doi.org/10.1007/s100380050016
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