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Article

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.

Human genetics - 1 Sept 1995

Lázaro C, Kruyer H, Gaona A, Estivill X

Abstract excerpt

We present two further cases of mutation R1947X in the neurofibromatosis type 1 gene. To date, a total of nine cases of mutation R1947X have been reported giving a frequency of about 2% and confirming the recurrence of this mutation. R1947X occurs within a CpG dinucleotide and supports the hypothesis that the mutation rate for this dinucleotide is higher than that of other dinucleotides. As routine analysis for...

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PMID: 7649559
DOI: 10.1007/BF00210425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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