Two further cases of mutation R1947X in the NF1 gene

screening for a relatively common recurrent mutation

Conxi Lázaro, Helena Kruyer, Antonia Gaona, Xavier P. Estivill

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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 R1947X is advisable, we have developed an allele-specific oligonucleotide hybridization assay for the efficient screening of a large number of samples.

Original languageEnglish
Pages (from-to)361-363
Number of pages3
JournalHuman Genetics
Volume96
Issue number3
DOIs
Publication statusPublished - Sep 1995
Externally publishedYes

Fingerprint

Mutation
Neurofibromatosis 1 Genes
Genes
Neurofibromatosis 1
Mutation Rate
Oligonucleotides
Alleles
Recurrence

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Two further cases of mutation R1947X in the NF1 gene : screening for a relatively common recurrent mutation. / Lázaro, Conxi; Kruyer, Helena; Gaona, Antonia; Estivill, Xavier P.

In: Human Genetics, Vol. 96, No. 3, 09.1995, p. 361-363.

Research output: Contribution to journalArticle

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