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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...

Topics

Alleles
Base Sequence
Dinucleoside Phosphates
Exons
Female
Genes, Dominant
Genes, Neurofibromatosis 1
Genetic Testing
Humans
Male
Molecular Sequence Data
Neurofibromatosis 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Hybridization

Pedigree

Point Mutation

Source

Identifiers

PMID: 7649559
DOI: 10.1007/BF00210425

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7649559-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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