Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing


Purpose: To analyze the spectrum and frequency of NF1 mutations in exon 10bMethods: Mutation and sequence analysis was performed at the DNA and cDNA level.Results: We identified nine exon 10b mitations in 232 unrelated patients. Some mutations were recurrent (Y488C and L508P), other were unique (1465–1466insC and ivs10b + 2deITAAG). Surprisingly, at the RNA… (More)
DOI: 10.1097/00125817-199909000-00002

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