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  • Title: A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
    Author: Park KC, Choi HO, Park KH, Kim KH, Eun HC.
    Journal: J Hum Genet; 2000; 45(2):84-5. PubMed ID: 10721668.
    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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